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wikidoc - User contributions [en]
2024-03-29T02:21:03Z
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MediaWiki 1.40.0
https://www.wikidoc.org/index.php?title=Leigh%27s_disease&diff=569860
Leigh's disease
2010-09-19T03:59:27Z
<p>Apalmer: /* X-linked Leigh's disease */</p>
<hr />
<div>{{Infobox_Disease |<br />
Name = {{PAGENAME}} |<br />
Image = |<br />
Caption = |<br />
DiseasesDB = 30792 |<br />
ICD10 = {{ICD10|G|31|8|g|30}} |<br />
ICD9 = {{ICD9|330.8}} |<br />
ICDO = |<br />
OMIM = 256000 |<br />
MedlinePlus = |<br />
eMedicineSubj = |<br />
eMedicineTopic = |<br />
MeshID = D007888 |<br />
}}<br />
<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''Leigh's disease''', a form of '''Leigh syndrome''', also known as '''Subacute Necrotizing Encephalomyelopathy (SNEM)''', is a rare neurometabolic disorder that affects the [[central nervous system]]. It is named after Denis Archibald Leigh, a British psychiatrist who first described the condition in 1951. <ref> {{cite web|url = http://pb.rcpsych.org/cgi/reprint/22/10/648.pdf|title = Obituaries|journal = Psychiatric Bulletin (1998)|accessdate = 1 Aug 2020}} </ref><br />
<br />
==Causes==<br />
It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in [[mitochondrial DNA]] or in nuclear DNA (gene [[SURF1]]<ref name="pmid17908801">{{cite journal |author=Pronicki M, Matyja E, Piekutowska-Abramczuk D, ''et al.'' |title=Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease |journal=J. Clin. Pathol. |volume=61 |issue=4 |pages=460–6 |year=2008 |month=April |pmid=17908801 |doi=10.1136/jcp.2007.051060 |url=http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=17908801 |pmc=2571978}}</ref> and some COX assembly factors) cause degradation of motor skills and eventually death.<br />
<br />
[[Mitochondria]] are some of the most important [[organelles]] in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of [[glucose]] and [[fatty acids]] into that of [[adenosine triphosphate]]. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. [[Mitochondria]] are also unique in that they carry their own type of [[DNA]], [[mitochondrial DNA]], or mtDNA. The information stored in the mtDNA is used in the creation of new mitochondria.<br />
<br />
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mtDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.<br />
<br />
==Presentation==<br />
The disease is most noted for its degradation in a person’s ability to control their movements. As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of [[lactic acidosis]], which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, [[kidney]] failure and [[heart]] problems. Life expectancy is usually about a year within the onset of symptoms although both acute fulminating illness of a few days and prolonged survival have been reported.<br />
<br />
==Treatment==<br />
It is a very rare disorder which affects only a small portion of the population, and as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. A high-fat, low-carbohydrate diet may be recommended. Adults may have puffiness and/or swelling of the eye area and the hands. It is currently treated with [[Vitamin B1]], or [[thiamin]], but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.<br />
<br />
==X-linked Leigh's disease==<br />
There is another form of this disease called the X-linked Leigh's disease which is not a [[mutation]] in the [[oxidative phosphorylation]] [[enzymes]] (which are both on the mtDNA and the [[nuclear DNA]]). The X-linked Leigh's disease is a mutation of a gene encoding [[Pyruvate dehydrogenase (lipoamide) alpha 1|PDHA1]], part of the [[pyruvate dehydrogenase complex]], located on the [[X chromosome]].<ref>{{OMIM|308930|LEIGH SYNDROME, X-LINKED}}</ref><br />
<br />
==References==<br />
{{reflist}}<br />
<br />
{{SIB}}<br />
{{Diseases of the nervous system}}<br />
{{Mitochondrial diseases}}<br />
[[Category:Mitochondrial diseases]]<br />
[[Category:Neurology]]<br />
<br />
[[de:Leigh-Syndrom]]<br />
[[nl:Leigh syndroom]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Leigh%27s_disease&diff=569859
Leigh's disease
2010-09-19T03:57:34Z
<p>Apalmer: /* Causes */</p>
<hr />
<div>{{Infobox_Disease |<br />
Name = {{PAGENAME}} |<br />
Image = |<br />
Caption = |<br />
DiseasesDB = 30792 |<br />
ICD10 = {{ICD10|G|31|8|g|30}} |<br />
ICD9 = {{ICD9|330.8}} |<br />
ICDO = |<br />
OMIM = 256000 |<br />
MedlinePlus = |<br />
eMedicineSubj = |<br />
eMedicineTopic = |<br />
MeshID = D007888 |<br />
}}<br />
<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''Leigh's disease''', a form of '''Leigh syndrome''', also known as '''Subacute Necrotizing Encephalomyelopathy (SNEM)''', is a rare neurometabolic disorder that affects the [[central nervous system]]. It is named after Denis Archibald Leigh, a British psychiatrist who first described the condition in 1951. <ref> {{cite web|url = http://pb.rcpsych.org/cgi/reprint/22/10/648.pdf|title = Obituaries|journal = Psychiatric Bulletin (1998)|accessdate = 1 Aug 2020}} </ref><br />
<br />
==Causes==<br />
It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in [[mitochondrial DNA]] or in nuclear DNA (gene [[SURF1]]<ref name="pmid17908801">{{cite journal |author=Pronicki M, Matyja E, Piekutowska-Abramczuk D, ''et al.'' |title=Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease |journal=J. Clin. Pathol. |volume=61 |issue=4 |pages=460–6 |year=2008 |month=April |pmid=17908801 |doi=10.1136/jcp.2007.051060 |url=http://jcp.bmj.com/cgi/pmidlookup?view=long&pmid=17908801 |pmc=2571978}}</ref> and some COX assembly factors) cause degradation of motor skills and eventually death.<br />
<br />
[[Mitochondria]] are some of the most important [[organelles]] in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of [[glucose]] and [[fatty acids]] into that of [[adenosine triphosphate]]. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. [[Mitochondria]] are also unique in that they carry their own type of [[DNA]], [[mitochondrial DNA]], or mtDNA. The information stored in the mtDNA is used in the creation of new mitochondria.<br />
<br />
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mtDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.<br />
<br />
==Presentation==<br />
The disease is most noted for its degradation in a person’s ability to control their movements. As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of [[lactic acidosis]], which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, [[kidney]] failure and [[heart]] problems. Life expectancy is usually about a year within the onset of symptoms although both acute fulminating illness of a few days and prolonged survival have been reported.<br />
<br />
==Treatment==<br />
It is a very rare disorder which affects only a small portion of the population, and as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. A high-fat, low-carbohydrate diet may be recommended. Adults may have puffiness and/or swelling of the eye area and the hands. It is currently treated with [[Vitamin B1]], or [[thiamin]], but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.<br />
<br />
==X-linked Leigh's disease==<br />
There is another form of this disease called the X-linked Leigh's disease which is not a [[mutation]] in the [[oxidative phosphorylation]] [[enzymes]] (which are both on the mtDNA and the [[nuclear DNA]]). The X-linked Leigh's disease is a mutation of a gene encoding [[Pyruvate dehydrogenase (lipoamide) alpha 1|PDHA1]], part of the [[pyruvate dehydrogenase complex]], located on the [[X chromosome]].<br />
<br />
==References==<br />
{{reflist}}<br />
<br />
{{SIB}}<br />
{{Diseases of the nervous system}}<br />
{{Mitochondrial diseases}}<br />
[[Category:Mitochondrial diseases]]<br />
[[Category:Neurology]]<br />
<br />
[[de:Leigh-Syndrom]]<br />
[[nl:Leigh syndroom]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Leigh%27s_disease&diff=569858
Leigh's disease
2010-09-19T03:55:15Z
<p>Apalmer: /* X-linked Leigh's disease */</p>
<hr />
<div>{{Infobox_Disease |<br />
Name = {{PAGENAME}} |<br />
Image = |<br />
Caption = |<br />
DiseasesDB = 30792 |<br />
ICD10 = {{ICD10|G|31|8|g|30}} |<br />
ICD9 = {{ICD9|330.8}} |<br />
ICDO = |<br />
OMIM = 256000 |<br />
MedlinePlus = |<br />
eMedicineSubj = |<br />
eMedicineTopic = |<br />
MeshID = D007888 |<br />
}}<br />
<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''Leigh's disease''', a form of '''Leigh syndrome''', also known as '''Subacute Necrotizing Encephalomyelopathy (SNEM)''', is a rare neurometabolic disorder that affects the [[central nervous system]]. It is named after Denis Archibald Leigh, a British psychiatrist who first described the condition in 1951. <ref> {{cite web|url = http://pb.rcpsych.org/cgi/reprint/22/10/648.pdf|title = Obituaries|journal = Psychiatric Bulletin (1998)|accessdate = 1 Aug 2020}} </ref><br />
<br />
==Causes==<br />
It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in [[mitochondrial DNA]] or in nuclear DNA (gene SURF1 and some COX assembly factors) cause degradation of motor skills and eventually death.<br />
<br />
[[Mitochondria]] are some of the most important [[organelles]] in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of [[glucose]] and [[fatty acids]] into that of [[adenosine triphosphate]]. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. [[Mitochondria]] are also unique in that they carry their own type of [[DNA]], [[mitochondrial DNA]], or mtDNA. The information stored in the mtDNA is used in the creation of new mitochondria.<br />
<br />
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mtDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.<br />
<br />
==Presentation==<br />
The disease is most noted for its degradation in a person’s ability to control their movements. As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of [[lactic acidosis]], which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, [[kidney]] failure and [[heart]] problems. Life expectancy is usually about a year within the onset of symptoms although both acute fulminating illness of a few days and prolonged survival have been reported.<br />
<br />
==Treatment==<br />
It is a very rare disorder which affects only a small portion of the population, and as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. A high-fat, low-carbohydrate diet may be recommended. Adults may have puffiness and/or swelling of the eye area and the hands. It is currently treated with [[Vitamin B1]], or [[thiamin]], but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.<br />
<br />
==X-linked Leigh's disease==<br />
There is another form of this disease called the X-linked Leigh's disease which is not a [[mutation]] in the [[oxidative phosphorylation]] [[enzymes]] (which are both on the mtDNA and the [[nuclear DNA]]). The X-linked Leigh's disease is a mutation of a gene encoding [[Pyruvate dehydrogenase (lipoamide) alpha 1|PDHA1]], part of the [[pyruvate dehydrogenase complex]], located on the [[X chromosome]].<br />
<br />
==References==<br />
{{reflist}}<br />
<br />
{{SIB}}<br />
{{Diseases of the nervous system}}<br />
{{Mitochondrial diseases}}<br />
[[Category:Mitochondrial diseases]]<br />
[[Category:Neurology]]<br />
<br />
[[de:Leigh-Syndrom]]<br />
[[nl:Leigh syndroom]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Leigh%27s_disease&diff=569857
Leigh's disease
2010-09-19T03:49:48Z
<p>Apalmer: /* Treatment */</p>
<hr />
<div>{{Infobox_Disease |<br />
Name = {{PAGENAME}} |<br />
Image = |<br />
Caption = |<br />
DiseasesDB = 30792 |<br />
ICD10 = {{ICD10|G|31|8|g|30}} |<br />
ICD9 = {{ICD9|330.8}} |<br />
ICDO = |<br />
OMIM = 256000 |<br />
MedlinePlus = |<br />
eMedicineSubj = |<br />
eMedicineTopic = |<br />
MeshID = D007888 |<br />
}}<br />
<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''Leigh's disease''', a form of '''Leigh syndrome''', also known as '''Subacute Necrotizing Encephalomyelopathy (SNEM)''', is a rare neurometabolic disorder that affects the [[central nervous system]]. It is named after Denis Archibald Leigh, a British psychiatrist who first described the condition in 1951. <ref> {{cite web|url = http://pb.rcpsych.org/cgi/reprint/22/10/648.pdf|title = Obituaries|journal = Psychiatric Bulletin (1998)|accessdate = 1 Aug 2020}} </ref><br />
<br />
==Causes==<br />
It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in [[mitochondrial DNA]] or in nuclear DNA (gene SURF1 and some COX assembly factors) cause degradation of motor skills and eventually death.<br />
<br />
[[Mitochondria]] are some of the most important [[organelles]] in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of [[glucose]] and [[fatty acids]] into that of [[adenosine triphosphate]]. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. [[Mitochondria]] are also unique in that they carry their own type of [[DNA]], [[mitochondrial DNA]], or mtDNA. The information stored in the mtDNA is used in the creation of new mitochondria.<br />
<br />
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mtDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.<br />
<br />
==Presentation==<br />
The disease is most noted for its degradation in a person’s ability to control their movements. As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of [[lactic acidosis]], which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, [[kidney]] failure and [[heart]] problems. Life expectancy is usually about a year within the onset of symptoms although both acute fulminating illness of a few days and prolonged survival have been reported.<br />
<br />
==Treatment==<br />
It is a very rare disorder which affects only a small portion of the population, and as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. A high-fat, low-carbohydrate diet may be recommended. Adults may have puffiness and/or swelling of the eye area and the hands. It is currently treated with [[Vitamin B1]], or [[thiamin]], but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.<br />
<br />
==X-linked Leigh's disease==<br />
There is another form of this disease called the X-linked Leigh's disease which is not a [[mutation]] in the [[oxidative phosphorylation]] [[enzymes]] (which are both on the mtDNA and the [[nuclear DNA]]). The X-linked Leigh's disease is a mutation of a gene encoding part of the [[pyruvate dehydrogenase complex]], located on the [[X chromosome]].<br />
<br />
{{SIB}}<br />
{{Diseases of the nervous system}}<br />
{{Mitochondrial diseases}}<br />
[[Category:Mitochondrial diseases]]<br />
[[Category:Neurology]]<br />
<br />
[[de:Leigh-Syndrom]]<br />
[[nl:Leigh syndroom]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Leigh%27s_disease&diff=569856
Leigh's disease
2010-09-19T03:47:41Z
<p>Apalmer: /* Presentation */</p>
<hr />
<div>{{Infobox_Disease |<br />
Name = {{PAGENAME}} |<br />
Image = |<br />
Caption = |<br />
DiseasesDB = 30792 |<br />
ICD10 = {{ICD10|G|31|8|g|30}} |<br />
ICD9 = {{ICD9|330.8}} |<br />
ICDO = |<br />
OMIM = 256000 |<br />
MedlinePlus = |<br />
eMedicineSubj = |<br />
eMedicineTopic = |<br />
MeshID = D007888 |<br />
}}<br />
<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''Leigh's disease''', a form of '''Leigh syndrome''', also known as '''Subacute Necrotizing Encephalomyelopathy (SNEM)''', is a rare neurometabolic disorder that affects the [[central nervous system]]. It is named after Denis Archibald Leigh, a British psychiatrist who first described the condition in 1951. <ref> {{cite web|url = http://pb.rcpsych.org/cgi/reprint/22/10/648.pdf|title = Obituaries|journal = Psychiatric Bulletin (1998)|accessdate = 1 Aug 2020}} </ref><br />
<br />
==Causes==<br />
It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in [[mitochondrial DNA]] or in nuclear DNA (gene SURF1 and some COX assembly factors) cause degradation of motor skills and eventually death.<br />
<br />
[[Mitochondria]] are some of the most important [[organelles]] in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of [[glucose]] and [[fatty acids]] into that of [[adenosine triphosphate]]. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. [[Mitochondria]] are also unique in that they carry their own type of [[DNA]], [[mitochondrial DNA]], or mtDNA. The information stored in the mtDNA is used in the creation of new mitochondria.<br />
<br />
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mtDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.<br />
<br />
==Presentation==<br />
The disease is most noted for its degradation in a person’s ability to control their movements. As it progresses rapidly, the earliest signs may be poor sucking ability and loss of head control and motor skills. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. A later sign can also be episodes of [[lactic acidosis]], which can lead to impairment of respiratory and kidney function. Some children can present with loss of development skills or developmental regression and have often had investigations for failure to thrive. As the disease progresses in adults, it may also cause general weakness, [[kidney]] failure and [[heart]] problems. Life expectancy is usually about a year within the onset of symptoms although both acute fulminating illness of a few days and prolonged survival have been reported.<br />
<br />
==Treatment==<br />
It is a very rare disorder which affects only a small portion of the population, and as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. It is currently treated with [[Vitamin B1]], or [[thiamin]], but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.<br />
<br />
==X-linked Leigh's disease==<br />
There is another form of this disease called the X-linked Leigh's disease which is not a [[mutation]] in the [[oxidative phosphorylation]] [[enzymes]] (which are both on the mtDNA and the [[nuclear DNA]]). The X-linked Leigh's disease is a mutation of a gene encoding part of the [[pyruvate dehydrogenase complex]], located on the [[X chromosome]].<br />
<br />
{{SIB}}<br />
{{Diseases of the nervous system}}<br />
{{Mitochondrial diseases}}<br />
[[Category:Mitochondrial diseases]]<br />
[[Category:Neurology]]<br />
<br />
[[de:Leigh-Syndrom]]<br />
[[nl:Leigh syndroom]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Leigh%27s_disease&diff=569855
Leigh's disease
2010-09-19T03:38:43Z
<p>Apalmer: /* Overview */</p>
<hr />
<div>{{Infobox_Disease |<br />
Name = {{PAGENAME}} |<br />
Image = |<br />
Caption = |<br />
DiseasesDB = 30792 |<br />
ICD10 = {{ICD10|G|31|8|g|30}} |<br />
ICD9 = {{ICD9|330.8}} |<br />
ICDO = |<br />
OMIM = 256000 |<br />
MedlinePlus = |<br />
eMedicineSubj = |<br />
eMedicineTopic = |<br />
MeshID = D007888 |<br />
}}<br />
<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''Leigh's disease''', a form of '''Leigh syndrome''', also known as '''Subacute Necrotizing Encephalomyelopathy (SNEM)''', is a rare neurometabolic disorder that affects the [[central nervous system]]. It is named after Denis Archibald Leigh, a British psychiatrist who first described the condition in 1951. <ref> {{cite web|url = http://pb.rcpsych.org/cgi/reprint/22/10/648.pdf|title = Obituaries|journal = Psychiatric Bulletin (1998)|accessdate = 1 Aug 2020}} </ref><br />
<br />
==Causes==<br />
It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in [[mitochondrial DNA]] or in nuclear DNA (gene SURF1 and some COX assembly factors) cause degradation of motor skills and eventually death.<br />
<br />
[[Mitochondria]] are some of the most important [[organelles]] in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of [[glucose]] and [[fatty acids]] into that of [[adenosine triphosphate]]. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. [[Mitochondria]] are also unique in that they carry their own type of [[DNA]], [[mitochondrial DNA]], or mtDNA. The information stored in the mtDNA is used in the creation of new mitochondria.<br />
<br />
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mtDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.<br />
<br />
==Presentation==<br />
The disease is most noted for its degradation in a person’s ability to control their movements. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. As the disease progresses in adults, it may also cause general weakness, [[kidney]] failure and [[heart]] problems.<br />
<br />
==Treatment==<br />
It is a very rare disorder which affects only a small portion of the population, and as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. It is currently treated with [[Vitamin B1]], or [[thiamin]], but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.<br />
<br />
==X-linked Leigh's disease==<br />
There is another form of this disease called the X-linked Leigh's disease which is not a [[mutation]] in the [[oxidative phosphorylation]] [[enzymes]] (which are both on the mtDNA and the [[nuclear DNA]]). The X-linked Leigh's disease is a mutation of a gene encoding part of the [[pyruvate dehydrogenase complex]], located on the [[X chromosome]].<br />
<br />
{{SIB}}<br />
{{Diseases of the nervous system}}<br />
{{Mitochondrial diseases}}<br />
[[Category:Mitochondrial diseases]]<br />
[[Category:Neurology]]<br />
<br />
[[de:Leigh-Syndrom]]<br />
[[nl:Leigh syndroom]]<br />
<br />
{{WH}}<br />
{{WS}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Leigh%27s_disease&diff=569854
Leigh's disease
2010-09-19T03:36:52Z
<p>Apalmer: </p>
<hr />
<div>{{Infobox_Disease |<br />
Name = {{PAGENAME}} |<br />
Image = |<br />
Caption = |<br />
DiseasesDB = 30792 |<br />
ICD10 = {{ICD10|G|31|8|g|30}} |<br />
ICD9 = {{ICD9|330.8}} |<br />
ICDO = |<br />
OMIM = 256000 |<br />
MedlinePlus = |<br />
eMedicineSubj = |<br />
eMedicineTopic = |<br />
MeshID = D007888 |<br />
}}<br />
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{{SI}}<br />
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{{CMG}}<br />
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{{EH}}<br />
<br />
==Overview==<br />
'''Leigh's disease''', a form of '''Leigh syndrome''', also known as '''Subacute Necrotizing Encephalomyelopathy (SNEM)''', is a rare neurometabolic disorder that affects the [[central nervous system]]. <br />
<br />
==Causes==<br />
It is an inherited disorder which usually affects infants, but in rare cases, teenagers and adults, as well. In the case of the disease, mutations in [[mitochondrial DNA]] or in nuclear DNA (gene SURF1 and some COX assembly factors) cause degradation of motor skills and eventually death.<br />
<br />
[[Mitochondria]] are some of the most important [[organelles]] in animal cells as they provide energy for the cell's function. In humans, their primary function is to convert the potential energy of [[glucose]] and [[fatty acids]] into that of [[adenosine triphosphate]]. The energy in the ATP is then used to carry out virtually all of the cell's metabolic functions. [[Mitochondria]] are also unique in that they carry their own type of [[DNA]], [[mitochondrial DNA]], or mtDNA. The information stored in the mtDNA is used in the creation of new mitochondria.<br />
<br />
When improper mutations of the mtDNA cause the mitochondria to fail to function properly, a person is at risk for number of disorders, including Leigh's disease. In the case of Leigh's Disease, crucial cells in the brain stem have mutated mtDNA which creates poorly functioning mitochondria. This causes a chronic lack of energy in the cells, which in turn affects the central nervous system and inhibits an individual's motor skills.<br />
<br />
==Presentation==<br />
The disease is most noted for its degradation in a person’s ability to control their movements. Other symptoms include loss of appetite, vomiting, irritability, continuous crying (in infants), and seizures. As the disease progresses in adults, it may also cause general weakness, [[kidney]] failure and [[heart]] problems.<br />
<br />
==Treatment==<br />
It is a very rare disorder which affects only a small portion of the population, and as of yet, there is no cure for Leigh's disease. It usually affects infants under 2 years of age, but, in rarer cases, teenagers and adults as well. It is currently treated with [[Vitamin B1]], or [[thiamin]], but even with treatment, infants rarely live longer than two or three years after the onset of the disease. In cases of older people, the disease takes longer, but is still almost always fatal.<br />
<br />
==X-linked Leigh's disease==<br />
There is another form of this disease called the X-linked Leigh's disease which is not a [[mutation]] in the [[oxidative phosphorylation]] [[enzymes]] (which are both on the mtDNA and the [[nuclear DNA]]). The X-linked Leigh's disease is a mutation of a gene encoding part of the [[pyruvate dehydrogenase complex]], located on the [[X chromosome]].<br />
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{{SIB}}<br />
{{Diseases of the nervous system}}<br />
{{Mitochondrial diseases}}<br />
[[Category:Mitochondrial diseases]]<br />
[[Category:Neurology]]<br />
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[[de:Leigh-Syndrom]]<br />
[[nl:Leigh syndroom]]<br />
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{{WH}}<br />
{{WS}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Pyruvate_dehydrogenase_deficiency&diff=569853
Pyruvate dehydrogenase deficiency
2010-09-19T03:32:13Z
<p>Apalmer: </p>
<hr />
<div>{{Infobox_Disease<br />
| Name = {{PAGENAME}}<br />
| Image = <br />
| Caption = <br />
| DiseasesDB = 30060<br />
| ICD10 = {{ICD10|E|74|4|e|70}}<br />
| ICD9 = <br />
| ICDO = <br />
| OMIM = 312170<br />
| MedlinePlus = <br />
| eMedicineSubj = ped<br />
| eMedicineTopic = 1969<br />
| MeshID = D015325<br />
}}<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''Pyruvate Dehydrogenase Deficiency''' (PDHA) is a human genetic disease. It follows a sex-linked, dominant inheritance pattern, but is approximately equally prevalent in both males and females. It affects a gene which codes for a critical enzyme complex, the '''Pyruvate dehydrogenase complex''' (PDC) which links the metabolic pathways of [[glycolysis]] and the [[citric acid cycle]] by transforming [[pyruvate]] into [[Acetyl CoA]]<br />
<br />
The [[pyruvate dehydrogenase complex]] facilitates [[oxidative decarboxylation]], the chemical reaction between [[glycolysis]] and the [[citric acid cycle]].<br />
<br />
==Presentation==<br />
PDHA causes [[Lactic acidosis]]; large amounts of [[lactic acid]] in the blood but with a normal [[pyruvate]]/[[lactate]] ratio. Symptoms are varied, and include developmental defects (especially of the brain and nervous system), muscular [[spasticity]] and early death.<br />
<br />
==Genetics==<br />
PDHA is most commonly linked to the alpha unit of [[Pyruvate dehydrogenase|E1]], but recessive variants exist.<br />
<br />
==Treatment==<br />
Use of a [[ketogenic diet]] has been described.<ref name="pmid18990309">{{cite journal |author=Barañano KW, Hartman AL |title=The ketogenic diet: uses in epilepsy and other neurologic illnesses |journal=Curr Treat Options Neurol |volume=10 |issue=6 |pages=410–9 |year=2008 |month=November |pmid=18990309 |pmc=2898565 |doi= 10.1007/s11940-008-0043-8|url=http://www.treatment-options.com/1092-8480/10/410 |format={{dead link|date=May 2010}}}}</ref><br />
<br />
Current research is being conducted on the viability of [[Dichloroacetic acid]] to treat the lactic acidosis commonly accompanied by this disorder.<ref name="pmid16725381">{{cite journal |author=Berendzen K, Theriaque DW, Shuster J, Stacpoole PW |title=Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency |journal=Mitochondrion |volume=6 |issue=3 |pages=126–35 |year=2006 |month=June |pmid=16725381 |doi=10.1016/j.mito.2006.04.001 |url=http://linkinghub.elsevier.com/retrieve/pii/S1567-7249(06)00056-0}}</ref><ref name="pmid18647626">{{cite journal |author=Stacpoole PW, Kurtz TL, Han Z, Langaee T |title=Role of dichloroacetate in the treatment of genetic mitochondrial diseases |journal=Adv. Drug Deliv. Rev. |volume=60 |issue=13-14 |pages=1478–87 |year=2008 |pmid=18647626 |doi=10.1016/j.addr.2008.02.014 |url=http://linkinghub.elsevier.com/retrieve/pii/S0169-409X(08)00161-0}}</ref> Additionally, there is research being conducted on the viability of gene therapy for sufferers of this condition as well as many other mitochondrial defects.<br />
<br />
==References==<br />
{{Reflist}}<br />
<br />
<br />
{{Mitochondrial diseases}}<br />
{{Metabolic pathology}}<br />
[[Category:Diseases]]<br />
[[Category:Inborn errors of metabolism]]<br />
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{{WikiDoc Sources}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569668
Hemophilia B (patient information)
2010-08-09T14:12:36Z
<p>Apalmer: /* Possible complications */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
[[Risk factors]] for [[hemophilia B]] include:<br />
<br />
*[[Family history]] of [[bleeding]]<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected [[bleeding]] disorder, he or she will undergo a series of tests called a [[coagulation]] study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
*Prolonged [[partial thromboplastin time]] ([[PTT]])<br />
*Normal prothrombin time<br />
*Normal [[bleeding time]]<br />
*Normal [[fibrinogen]] level<br />
*Low [[factor IX]]<br />
<br />
==When to seek urgent medical care== <br />
Call your [[health care provider]] if: <br />
*Symptoms of a [[bleeding disorder]] develop<br />
*A family member has been diagnosed with [[hemophilia B]]<br />
*If you have [[hemophilia B]], and you plan to have children; [[genetic counseling]] is available<br />
<br />
==Treatment options== <br />
[[Standard treatment]] is [[infusion]] of [[factor IX]] concentrates to replace the defective [[clotting factor]]. The amount infused depends upon the severity of [[bleeding]], the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with [[hemophilia]] and their families can be taught to administer [[factor IX]] concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, [[factor IX]] concentrate may be given prior to dental extractions and [[surgery]] to prevent bleeding.<br />
<br />
[[Hepatitis B vaccine]] is recommended for individuals with [[hemophilia B]] because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
[[Genetic counseling]] may be recommended. Testing can identify females who carry the [[hemophilia]] [[gene]]. [[Prenatal]] intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with [[treatment]]. Most people with [[hemophilia]] are able to lead relatively normal lives. A small number of people develop inhibitors of [[factor IX]], and may die from loss of blood.<br />
<br />
Patients with [[hemophilia B]] should establish regular care with a [[hematologist]], especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to [[medical records]] documenting the patient's history of [[factor IX]] levels, factor [[transfusions]] (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
[[Chronic]] joint deformities may occur from recurrent [[bleeding]] into the [[joint]]. These can be managed by an [[orthopedic]] [[specialist]]. However, [[joint replacement]](s) may be needed.<br />
<br />
[[Intracerebral hemorrhage]] (such as deep intracerebral hemorrhage and [[lobar]] intracerebral hemorrhage) may also occur.<br />
<br />
Repeated [[transfusions]] may slightly raise the risk for [[HIV]] and [[hepatitis]], however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
[[Thrombosis]] may occur following use of [[factor IX]] concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569667
Hemophilia B (patient information)
2010-08-09T14:04:21Z
<p>Apalmer: /* What to expect (Outlook/Prognosis) */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
[[Risk factors]] for [[hemophilia B]] include:<br />
<br />
*[[Family history]] of [[bleeding]]<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected [[bleeding]] disorder, he or she will undergo a series of tests called a [[coagulation]] study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
*Prolonged [[partial thromboplastin time]] ([[PTT]])<br />
*Normal prothrombin time<br />
*Normal [[bleeding time]]<br />
*Normal [[fibrinogen]] level<br />
*Low [[factor IX]]<br />
<br />
==When to seek urgent medical care== <br />
Call your [[health care provider]] if: <br />
*Symptoms of a [[bleeding disorder]] develop<br />
*A family member has been diagnosed with [[hemophilia B]]<br />
*If you have [[hemophilia B]], and you plan to have children; [[genetic counseling]] is available<br />
<br />
==Treatment options== <br />
[[Standard treatment]] is [[infusion]] of [[factor IX]] concentrates to replace the defective [[clotting factor]]. The amount infused depends upon the severity of [[bleeding]], the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with [[hemophilia]] and their families can be taught to administer [[factor IX]] concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, [[factor IX]] concentrate may be given prior to dental extractions and [[surgery]] to prevent bleeding.<br />
<br />
[[Hepatitis B vaccine]] is recommended for individuals with [[hemophilia B]] because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
[[Genetic counseling]] may be recommended. Testing can identify females who carry the [[hemophilia]] [[gene]]. [[Prenatal]] intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with [[treatment]]. Most people with [[hemophilia]] are able to lead relatively normal lives. A small number of people develop inhibitors of [[factor IX]], and may die from loss of blood.<br />
<br />
Patients with [[hemophilia B]] should establish regular care with a [[hematologist]], especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to [[medical records]] documenting the patient's history of [[factor IX]] levels, factor [[transfusions]] (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569666
Hemophilia B (patient information)
2010-08-09T14:01:57Z
<p>Apalmer: /* Prevention of Hemophilia B */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
[[Risk factors]] for [[hemophilia B]] include:<br />
<br />
*[[Family history]] of [[bleeding]]<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected [[bleeding]] disorder, he or she will undergo a series of tests called a [[coagulation]] study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
*Prolonged [[partial thromboplastin time]] ([[PTT]])<br />
*Normal prothrombin time<br />
*Normal [[bleeding time]]<br />
*Normal [[fibrinogen]] level<br />
*Low [[factor IX]]<br />
<br />
==When to seek urgent medical care== <br />
Call your [[health care provider]] if: <br />
*Symptoms of a [[bleeding disorder]] develop<br />
*A family member has been diagnosed with [[hemophilia B]]<br />
*If you have [[hemophilia B]], and you plan to have children; [[genetic counseling]] is available<br />
<br />
==Treatment options== <br />
[[Standard treatment]] is [[infusion]] of [[factor IX]] concentrates to replace the defective [[clotting factor]]. The amount infused depends upon the severity of [[bleeding]], the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with [[hemophilia]] and their families can be taught to administer [[factor IX]] concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, [[factor IX]] concentrate may be given prior to dental extractions and [[surgery]] to prevent bleeding.<br />
<br />
[[Hepatitis B vaccine]] is recommended for individuals with [[hemophilia B]] because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
[[Genetic counseling]] may be recommended. Testing can identify females who carry the [[hemophilia]] [[gene]]. [[Prenatal]] intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569665
Hemophilia B (patient information)
2010-08-09T13:59:29Z
<p>Apalmer: /* Treatment options */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
[[Risk factors]] for [[hemophilia B]] include:<br />
<br />
*[[Family history]] of [[bleeding]]<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected [[bleeding]] disorder, he or she will undergo a series of tests called a [[coagulation]] study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
*Prolonged [[partial thromboplastin time]] ([[PTT]])<br />
*Normal prothrombin time<br />
*Normal [[bleeding time]]<br />
*Normal [[fibrinogen]] level<br />
*Low [[factor IX]]<br />
<br />
==When to seek urgent medical care== <br />
Call your [[health care provider]] if: <br />
*Symptoms of a [[bleeding disorder]] develop<br />
*A family member has been diagnosed with [[hemophilia B]]<br />
*If you have [[hemophilia B]], and you plan to have children; [[genetic counseling]] is available<br />
<br />
==Treatment options== <br />
[[Standard treatment]] is [[infusion]] of [[factor IX]] concentrates to replace the defective [[clotting factor]]. The amount infused depends upon the severity of [[bleeding]], the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with [[hemophilia]] and their families can be taught to administer [[factor IX]] concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, [[factor IX]] concentrate may be given prior to dental extractions and [[surgery]] to prevent bleeding.<br />
<br />
[[Hepatitis B vaccine]] is recommended for individuals with [[hemophilia B]] because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569664
Hemophilia B (patient information)
2010-08-09T13:49:11Z
<p>Apalmer: /* When to seek urgent medical care */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
[[Risk factors]] for [[hemophilia B]] include:<br />
<br />
*[[Family history]] of [[bleeding]]<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected [[bleeding]] disorder, he or she will undergo a series of tests called a [[coagulation]] study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
*Prolonged [[partial thromboplastin time]] ([[PTT]])<br />
*Normal prothrombin time<br />
*Normal [[bleeding time]]<br />
*Normal [[fibrinogen]] level<br />
*Low [[factor IX]]<br />
<br />
==When to seek urgent medical care== <br />
Call your [[health care provider]] if: <br />
*Symptoms of a [[bleeding disorder]] develop<br />
*A family member has been diagnosed with [[hemophilia B]]<br />
*If you have [[hemophilia B]], and you plan to have children; [[genetic counseling]] is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569663
Hemophilia B (patient information)
2010-08-09T13:47:19Z
<p>Apalmer: /* How do I know I have Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
[[Risk factors]] for [[hemophilia B]] include:<br />
<br />
*[[Family history]] of [[bleeding]]<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected [[bleeding]] disorder, he or she will undergo a series of tests called a [[coagulation]] study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
*Prolonged [[partial thromboplastin time]] ([[PTT]])<br />
*Normal prothrombin time<br />
*Normal [[bleeding time]]<br />
*Normal [[fibrinogen]] level<br />
*Low [[factor IX]]<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569662
Hemophilia B (patient information)
2010-08-09T13:40:23Z
<p>Apalmer: /* Who is at risk for Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
[[Risk factors]] for [[hemophilia B]] include:<br />
<br />
*[[Family history]] of [[bleeding]]<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569661
Hemophilia B (patient information)
2010-08-09T13:38:35Z
<p>Apalmer: /* What causes Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
[[Hemophilia B]] is caused by an inherited [[X-linked]] [[recessive trait]], with the defective [[gene]] located on the [[X chromosome]].<br />
<br />
Females have two copies of the [[X chromosome]], so if the [[factor IX]] [[gene]] on one [[chromosome]] is defective, the [[gene]] on the other [[chromosome]] can do the job of making enough [[factor IX]].<br />
<br />
Males, however, have only one [[X chromosome]], so if the [[factor IX]] [[gene]] on that [[chromosome]] is defective, they will have [[Hemophilia B]]. Therefore, most people with [[hemophilia B]] are male.<br />
<br />
If a woman has a defective [[factor IX]] [[gene]], she is considered a carrier. This means the defective [[gene]] can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective [[gene]] have a 50% chance of having [[hemophilia B]], while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with [[hemophilia]] carry the defective [[gene]].<br />
<br />
==Who is at risk for Hemophilia B?==<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569660
Hemophilia B (patient information)
2010-08-09T13:33:11Z
<p>Apalmer: /* What are the symptoms of Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
[[Bleeding]] is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to [[surgery]] or [[trauma]]. Internal bleeding may occur anywhere and bleeding into [[joints]] is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated [[pain]] and [[swelling]]<br />
*Blood in the [[urine]] or [[stool]]<br />
*[[Bruising]]<br />
*Excessive bleeding following [[circumcision]]<br />
*[[Gastrointestinal tract]] and [[urinary tract]] [[hemorrhage]]<br />
*[[Nosebleeds]]<br />
*Prolonged bleeding from cuts, tooth extraction, and [[surgery]]<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
==Who is at risk for Hemophilia B?==<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569659
Hemophilia B (patient information)
2010-08-09T13:24:56Z
<p>Apalmer: /* What is Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
[[Hemophilia B]] is a hereditary bleeding disorder caused by a lack of [[blood clotting]] factor IX. Without enough [[factor IX]], the blood cannot clot properly to control [[bleeding]].<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
==Who is at risk for Hemophilia B?==<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569657
Hemophilia B (patient information)
2010-08-06T21:01:04Z
<p>Apalmer: </p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
==Who is at risk for Hemophilia B?==<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569656
Hemophilia B (patient information)
2010-08-06T20:59:18Z
<p>Apalmer: /* Prevention of Hemophilia B */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
Genetic counseling may be recommended. Testing can identify females who carry the hemophilia gene. Prenatal intrauterine tests can be done to determine if a developing baby has the disorder.<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569655
Hemophilia B (patient information)
2010-08-06T20:58:13Z
<p>Apalmer: /* When to seek urgent medical care */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care== <br />
Call your health care provider if: <br />
*Symptoms of a bleeding disorder develop<br />
*A family member has been diagnosed with hemophilia B<br />
*If you have hemophilia B, and you plan to have children; genetic counseling is available<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569654
Hemophilia B (patient information)
2010-08-06T20:56:29Z
<p>Apalmer: /* Possible complications */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
Chronic joint deformities may occur from recurrent bleeding into the joint. These can be managed by an orthopedic specialist. However, joint replacement(s) may be needed.<br />
<br />
Intracerebral hemorrhage (such as deep intracerebral hemorrhage and lobar intracerebral hemorrhage) may also occur.<br />
<br />
Repeated transfusions may slightly raise the risk for HIV and hepatitis, however, continued improvements in blood screening procedures makes blood products safer than ever.<br />
<br />
Thrombosis may occur following use of factor IX concentrate.<br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569653
Hemophilia B (patient information)
2010-08-06T20:51:11Z
<p>Apalmer: /* What to expect (Outlook/Prognosis) */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)== <br />
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. A small number of people develop inhibitors of factor IX, and may die from loss of blood.<br />
<br />
Patients with hemophilia B should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569652
Hemophilia B (patient information)
2010-08-06T20:48:09Z
<p>Apalmer: /* Sources */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)==<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569651
Hemophilia B (patient information)
2010-08-06T20:46:52Z
<p>Apalmer: /* Treatment options */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.<br />
<br />
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need ongoing, preventive infusions.<br />
<br />
Depending on the severity of the disease, factor IX concentrate may be given prior to dental extractions and surgery to prevent bleeding.<br />
<br />
Hepatitis B vaccine is recommended for individuals with hemophilia B because they are at increased risk of developing hepatitis due to exposure to blood products.<br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)==<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569650
Hemophilia B (patient information)
2010-08-06T20:40:44Z
<p>Apalmer: /* How do I know I have Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?==<br />
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once the specific defect has been identified, other family members will need less testing to diagnose the disorder.<br />
<br />
Tests results may include:<br />
<br />
*Prolonged partial thromboplastin time (PTT)<br />
<br />
*Normal prothrombin time<br />
<br />
*Normal bleeding time<br />
<br />
*Normal fibrinogen level<br />
<br />
*Low factor IX<br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)==<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569649
Hemophilia B (patient information)
2010-08-06T20:36:27Z
<p>Apalmer: /* What causes Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
Hemophilia B is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome.<br />
<br />
Females have two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the gene on the other chromosome can do the job of making enough factor IX.<br />
<br />
Males, however, have only one X chromosome, so if the factor IX gene on that chromosome is defective, they will have Hemophilia B. Therefore, most people with hemophilia B are male.<br />
<br />
If a woman has a defective factor IX gene, she is considered a carrier. This means the defective gene can be passed down to her children.<br />
<br />
Boys born to a woman who carries the defective gene have a 50% chance of having hemophilia B, while their daughters have a 50% chance of being a carrier.<br />
<br />
All female children of men with hemophilia carry the defective gene.<br />
<br />
Risk factors for hemophilia B include:<br />
<br />
*Family history of bleeding<br />
<br />
*Being male<br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?== <br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)==<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569648
Hemophilia B (patient information)
2010-08-06T20:33:46Z
<p>Apalmer: /* What are the symptoms of Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?==<br />
The severity of symptoms can vary, and the severe forms become apparent early on.<br />
<br />
Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised. Additional bleeding problems usually show up when the infant becomes mobile.<br />
<br />
Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common.<br />
<br />
Symptoms can include:<br />
<br />
*Bleeding into joints and associated pain and swelling<br />
*Blood in the urine or stool<br />
*Bruising<br />
<br />
*Excessive bleeding following circumcision<br />
<br />
*Gastrointestinal tract and urinary tract hemorrhage<br />
*Nosebleeds<br />
<br />
*Prolonged bleeding from cuts, tooth extraction, and surgery<br />
<br />
*Spontaneous bleeding<br />
<br />
==What causes Hemophilia B?== <br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?== <br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)==<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569647
Hemophilia B (patient information)
2010-08-06T20:28:19Z
<p>Apalmer: /* What is Hemophilia B? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
Hemophilia B is a hereditary bleeding disorder caused by a lack of blood clotting factor IX. Without enough factor IX, the blood cannot clot properly to control bleeding.<br />
<br />
==What are the symptoms of Hemophilia B?== <br />
<br />
==What causes Hemophilia B?== <br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?== <br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)==<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia_B_(patient_information)&diff=569646
Hemophilia B (patient information)
2010-08-06T20:26:15Z
<p>Apalmer: New page: '''For the WikiDoc page for this topic, click here''' {{SI}} '''Editor-in-Chief:''' Alexandra M. Palmer {{EJ}} ==What is Hemophilia B?== ==What are the symptoms of...</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Hemophilia B|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Hemophilia B?==<br />
<br />
==What are the symptoms of Hemophilia B?== <br />
<br />
==What causes Hemophilia B?== <br />
<br />
==Who is at risk for Hemophilia B?==<br />
<br />
==How do I know I have Hemophilia B?== <br />
<br />
==When to seek urgent medical care==<br />
<br />
==Treatment options== <br />
<br />
==Where to find medical care for Hemophilia B==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Hemophilia B}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Hemophilia B]<br />
<br />
==Prevention of Hemophilia B==<br />
<br />
==What to expect (Outlook/Prognosis)==<br />
<br />
==Possible complications== <br />
<br />
==Sources==<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia&diff=569644
Hemophilia
2010-08-06T19:35:17Z
<p>Apalmer: </p>
<hr />
<div><!--Note that haemophilia/hemophilia is a UK/US spelling difference, so as per the usual policy please leave the spelling as is.--><br />
{{Infobox_Disease<br />
| Name = Hemophilia<br />
| Image = Hemophilic pseudotumor.jpg<br />
| Caption = 17-year-old hemophiliac has a pseudotumor of the calcaneus that expands the bone and has stimulated dense new bone formation. <br> <small> [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology] </small><br />
| DiseasesDB = 5555<br />
| DiseasesDB_mult = {{DiseasesDB2|5561}} {{DiseasesDB2|29376}}<br />
| ICD10 = {{ICD10|D|66||d|65}}-{{ICD10|D|68||d|65}}<br />
| ICD9 = {{ICD9|286}}<br />
| ICDO =<br />
| OMIM = 306700<br />
| OMIM_mult = {{OMIM2|306900}} {{OMIM2|264900}}<br />
| MedlinePlus = 000537<br />
| eMedicineSubj = med<br />
| eMedicineTopic = 3528<br />
| MeshID = D025861<br />
}}<br />
{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{Editor Help}}<br />
<br />
==Overview==<br />
<br />
'''Hemophilia''' or '''haemophilia''' is the name of a family of [[heredity|hereditary]] [[genetic illness]]es that impair the body's ability to control [[coagulation]]. <br />
<br />
==Differential Diagnosis==<br />
Hemophilia A can be mimicked by [[von Willebrand Disease]]<br />
* von Willebrand Disease type 2A, where decreased levels of von Willebrand Factor can lead to premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 2A is inherited in an autosomal dominant fashion.<br />
* von Willebrand Disease type 2N, where von Willebrand Factor cannot bind Factor VIII<br />
* von Willebrand Disease type 3, where lack of von Willebrand Factor causes premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 3 is inherited in an autosomal recessive fashion.<br />
<br />
==Presentation==<br />
Genetic deficiencies and a rare [[autoimmune disorder]] may lower plasma [[clotting factor]] levels of coagulation factors needed for a normal clotting process. When a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation which is necessary to maintain the blood clot. Therefore, there is no increase in bleeding time with haemophilia because platelets are intact, allowing the formation of these temporary hemostatic plugs (clots). However, "late" bleeding is affected, because these hemostatic plugs are not able to be maintained.<br />
<br />
The bleeding with [[hemorrhage|external]] injury is normal, but incidence of late re-bleeding and [[internal bleeding]] is increased, especially into muscles, joints, or bleeding into closed spaces. Major complications include [[hemarthrosis]], [[hemorrhage]], [[Gastrointestinal bleeding]], and [[menorrhagia]]. <br />
<br />
==Causes==<br />
It is caused by a lack of clotting factors:<br />
* [[Hemophilia A]] has a lack of the clotting [[Factor VIII]]. ([[Hemophilia A]] occurs in 90% of cases.)<br />
* [[Hemophilia B]] has a lack of the clotting [[Factor IX]].<br />
* [[Hemophilia C]] has a lack of the clotting [[Factor XI]].<br />
<br />
==History==<br />
The first record of haemophilia is in the Talmud, Jewish holy text, which states that males did not have to be circumcised if two brothers had already died from the procedure. In the 12th century, the Arab physician Albucasis wrote of a family whose males died of bleeding after minor injuries. Then, in 1803, Dr. John Conrad Otto, a Philadelphia physician, wrote an account about "a hemorrhagic disposition existing in certain families." He recognised that the disorder was hereditary and that it affected males and rarely females. He was able to trace the disease back to a woman who settled near Plymouth in 1720. The first usage of the term "haemophilia" appears in a description of the condition written by Hopff at the University of Zurich in 1828.<ref>{{cite web |url=http://www.hemophilia.ca/en/2.1.2.php |title=The History of haemophilia |accessdate=2007-06-27 |format= |work=}}</ref> In 1937, Patek and Taylor, two doctors from Harvard, discovered [[Factor VII|anti-haemophilic globulin]]. Pavlosky, a doctor from Buenos Aires, found [[Hemophilia A]] and [[Hemophilia B]] to be separate diseases by doing a lab test. This test was done by transferring the blood of one haemophiliac to another haemophiliac. The fact that this corrected the clotting problem showed that there was more than one form of haemophilia.<br />
:''See main article at [[Haemophilia in European royalty]]''<br />
<br />
Haemophilia figured prominently in the history of European royalty and thus is sometimes known as "the royal disease". Queen Victoria passed the mutation to her son Leopold and, through several of her daughters, to various royals across the continent, including the royal families of Spain, Germany, and Russia. Tsarevich Alexei Nikolaevich, son of Nicholas II, was a descendant of Queen Victoria and suffered from haemophilia.<br />
<br />
Prior to 1985, there were no laws enacted to screen blood, even though the technology existed. Corporations decided that the deaths of thousands of young men were more cost efficient than the instalation and usage of the screening equipment. As a result, many haemophilia patients who received untested and unscreened clotting factor prior to 1992 were at an extreme risk for contracting [[HIV]] and [[Hepatitis C]] via these blood products. At a rate of over 90% of the Haemophilia population, over 10,000 people contracted HIV from the tainted blood supply in the United States alone.<br />
<br />
About 18,000 people in the United States have haemophilia. Each year, about 400 babies are born with the disorder. Haemophilia usually occurs in males and less often in females.<br />
<br />
In the UK we now know that of every four baby boys born with Haemophilia, one will be born to a family with no previous history of the condition.<br />
<br />
==Genetic structure==<br />
[[Image:XlinkRecessive.jpg|left|thumb|150px|X-linked recessive inheritance]]<br />
Females possess two X-chromosomes, whereas males have one X and one [[Y chromosome]]. Since the mutations causing the disease are [[recessive gene|recessive]], a woman carrying the defect on one of her X-chromosomes may not be affected by it, as the equivalent [[allele]] on her other chromosome should express itself to produce the necessary clotting factors. However the Y-chromosome in men has no [[gene]] for factors VIII or IX. <br />
<br />
If the genes responsible for production of [[factor VIII]] or [[factor IX]] present on a male's X-chromosome is deficient there is no equivalent on the Y-chromosome, so the deficient gene is not masked by the [[autosomal|dominant]] allele and he will develop the illness.<br />
<br />
Since a male receives his single X-chromosome from his mother, the son of a healthy female silently carrying the deficient gene will have a 50% chance of inheriting that gene from her and with it the disease; and if his mother is affected with haemophilia, he will have a 100% chance of being a haemophiliac. <br />
<br />
In contrast, for a female to inherit the disease, she must receive two deficient X-chromosomes, one from her mother and the other from her father (who must therefore be a haemophiliac himself). Hence haemophilia is far more common among males than females. However it is possible for female carriers to become mild haemophiliacs due to [[lyonisation]] of the X chromosomes. <br />
<br />
Haemophiliac daughters are more common than they once were, as improved treatments for the disease have allowed more haemophiliac males to survive to adulthood and become parents. Adult females may experience [[menorrhagia]] (heavy periods) due to the bleeding tendency. The pattern of inheritance is criss-cross type. This type of pattern is also seen in [[color blindness]]. <br />
<br />
As with all genetic disorders, it is of course also possible for a human to acquire it spontaneously ([[mutation|de novo]]), rather than inheriting it, because of a new mutation in one of their parents' gametes. Spontaneous mutations account for about ⅓ of all [[haemophilia A]] and 20% of all [[haemophilia B]] cases. <br />
<br />
[[Genetic testing]] and [[genetic counseling]] is recommended for families with haemophilia. [[Prenatal testing]], such as [[amniocentesis]], is available to pregnant women who may be carriers of the condition.<br />
<br />
===Probability===<br />
<br />
If a female gives birth to a haemophiliac child, either the female is a carrier for the disease or the haemophilia was the result of a [[mutation|spontaneous mutation]]. Until modern direct [[Genetic fingerprinting|DNA testing]], however, it was impossible to determine if a female with only healthy children was a carrier or not. Generally, the more healthy sons she bore, the higher the probability that she was not a carrier. If the [[Rhesus blood group system|RH factor]] of the born male is different from the mother, the child will not be affected.<br />
<br />
If a male is afflicted with the disease and has children, his daughters will be carriers of haemophilia. His sons, however, will not be affected with the disease. This is because the disease is X-linked and the father can not pass haemophilia through the Y chromosome.<br />
<br />
==Diagnostic Findings <small> <ref>Hermann, G, Gilbert, MS, Abdelwahab, IF [http://www.ajronline.org/cgi/content/abstract/158/1/119 Hemophilia: evaluation of musculoskeletal involvement with CT, sonography, and MR imaging]. Am. J. Roentgenol. 1992 158: 119-123.</ref> <ref>Jaume Llauger, Jaume Palmer, Núria Rosón, Sílvia Bagué, Àngels Camins, and Rosa Cremades. [http://radiographics.rsnajnls.org/cgi/content/abstract/20/suppl_1/S263 Nonseptic Monoarthritis: Imaging Features with Clinical and Histopathologic Correlation.] RadioGraphics 2000 20: 263S-278S.</ref> </small>==<br />
<br />
Findings vary greatly with the different stages of hemophilic arthropathy (acute, subacute, or chronic hemarthrosis)<br />
<br />
Images reflect the presence of hemarthrosis (joint effusion), synovial inflammation and hyperemia ([[osteoporosis]] and epiphyseal overgrowth), chondral erosions and subchondral resorption (osseous erosions and cysts), cartilaginous denudation (joint space narrowing), intraosseous or subperiosteal hemorrhage (pseudotumors), and osseous proliferation (sclerosis and [[osteophyte]]s). <br />
<br />
Some abnormalities of osseous shape, such as '''widening of the intercondylar notch, flattening of the condylar surface, or squaring of the patella, are very characteristic of chronic hemarthrosis of the knee'''.<br />
<br />
* The clinical and radiologic features of patients with classic hemophilia and Christmas disease are virtually identical. <br />
* Hemorrhage most often occurs in the synovial joints. In descending order, the knee, ankle, elbow, shoulder, and hip are involved.<br />
* Repetitive bleeding into the musculoskeletal system is the most common complication of both conditions. <br />
* Bleeding into the joints leads to hemophilic arthropathy. <br />
* Bleeding into muscles causes joint contractures<br />
* Bleeding into bone and adjacent soft tissues results in osseous and soft-tissue pseudotumors.<br />
<br />
===X-ray===<br />
<br />
([http://www.radswiki.net Images courtesy of RadsWiki])<br />
<br />
<gallery><br />
Image:Hemophilia-001.jpg|Hemophilic arthropathy involving the bilateral knees<br />
Image:Hemophilia-002.jpg|Hemophilic arthropathy involving the bilateral knees<br />
Image:Hemophilia-003.jpg|Hemophilic arthropathy involving the bilateral knees<br />
Image:Hemophilia-004.jpg|Hemophilic arthropathy involving the bilateral knees<br />
</gallery><br />
<br />
<br />
<gallery><br />
Image:Hemophilia_ankle_101.jpg|X-ray of the ankle in a patient with Hemophilia<br />
Image:Hemophilia_ankle_102.jpg|X-ray of the ankle in a patient with Hemophilia<br />
Image:Hemophilia_ankle_103.jpg|X-ray of the ankle in a patient with Hemophilia<br />
</gallery><br />
<br />
<br />
<gallery><br />
Image:Hemophilia_knee_101.jpg|X-ray of the knee in a patient with Hemophilia<br />
Image:Hemophilia_knee_102.jpg|X-ray of the knee in a patient with Hemophilia<br />
</gallery><br />
<br />
===Computed Tomography===<br />
<br />
([http://www.radswiki.net Images courtesy of RadsWiki])<br />
<br />
<gallery><br />
Image:Hemophilia-kidney-001.jpg|CT: Hemophilia. Bleeding into Kidney<br />
Image:Hemophilia-kidney-002.jpg|CT: Hemophilia. Bleeding into Kidney<br />
Image:Hemophilia-kidney-003.jpg|CT: Hemophilia. Bleeding into Kidney<br />
</gallery><br />
<br />
===MRI===<br />
<br />
([http://www.radswiki.net Images courtesy of RadsWiki])<br />
<br />
<gallery><br />
Image:Hemophilia ankle MRI 104.jpg|Ankle MRI in a patient with Hemophilia<br />
Image:Hemophilia ankle MRI 105.jpg|Ankle MRI in a patient with Hemophilia<br />
</gallery><br />
<br />
<br />
<gallery><br />
Image:Hemophilia knee MRI 103.jpg|Knee MRI in a patient with Hemophilia<br />
Image:Hemophilia knee MRI 104.jpg|Knee MRI in a patient with Hemophilia<br />
Image:Hemophilia knee MRI 105.jpg|Knee MRI in a patient with Hemophilia<br />
</gallery><br />
<br />
==Treatment==<br />
<br />
Though there is no cure for haemophilia, it can be controlled with '''regular infusions''' of the deficient clotting factor, i.e. [[factor VIII]] in haemophilia A or [[factor IX]] in haemophilia B. Some haemophiliacs develop antibodies (inhibitors) against the replacement factors given to them, so the amount of the factor has to be increased or non-human replacement products must be given, such as [[porcine]] factor VIII Troy.<br />
<br />
If a patient becomes refractory to replacement coagulation factor as a result of circulating inhibitors, this may be overcome with recombinant human [[factor VII]] (NovoSeven®), which is registered for this indication in many countries.<br />
<br />
In western countries, common standards of care fall into one of two categories: prophylaxis or on-demand. Prophylaxis involves the infusion of clotting factor on a regular schedule in order to keep clotting levels sufficiently high to prevent spontaneous bleeding episodes. On-demand treatment involves treating bleeding episodes once they arise. In 2007, a clinical trial was published in the New England Journal of Medicine comparing on-demand treatment of boys (< 30 months) with Haemophilia A with prophylactic treatment (infusions of 25 IU/kg body weight of [[Factor VIII]] every other day) in respect to its effect on the prevention of joint-diseases. When the boys reached 6 years of age, 93% of those in the prophylaxis group and 55% of those in the episodic-therapy group had a normal index joint-structure on [[MRI]]. <ref> Manco-Johnson MJ, Abshire TC, Shapiro AD, Riske B, Hacker MR, Kilcoyne R, Ingram JD, Manco-Johnson ML, Funk S, Jacobson L, Valentino LA, Hoots WK, Buchanan GR, DiMichele D, Recht M, Brown D, Leissinger C, Bleak S, Cohen A, Mathew P, Matsunaga A, Medeiros D, Nugent D, Thomas GA, Thompson AA, McRedmond K, Soucie JM, Austin H, Evatt BL. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe haemophilia. N Engl J Med. 2007 Aug 9;357(6):535-44. PMID 17687129 </ref> Prophylactic treatment, however, resulted in average costs of $300,000 per year. The author of an editorial published in the same issue of the New England Journal of Medicine demands more clinical studies addressing the cost-effectiveness of prophylactic treatment. <ref> Roosendaal G, Lafeber F. Prophylactic treatment for prevention of joint disease in haemophilia--cost versus benefit. N Engl J Med. 2007 Aug 9;357(6):603-5. PMID 17687136 </ref><br />
<br />
As a direct result of the contamination of the blood supply in the late 1970s and early/mid 1980s with viruses such as [[Hepatitis]] and [[HIV]], new methods were developed in the production of clotting factor products. The initial response was to heat-treat ([[pasteurize]]) plasma-derived factor concentrate, followed by the development of monoclonal factor concentrates, which use a combination of heat treatment and affinity chromatography to inactivate any viral agents in the pooled plasma from which the factor concentrate is derived. The [[Lindsay Tribunal]] in Ireland investigated, among other things, the slow adoption of the new methods.<br />
<br />
Since 1993 (Dr. Mary Nugent), recombinant factor products (which are typically cultured in Chinese hamster ovary ([[Chinese Hamster Ovary cell|CHO]]) tissue culture cells and involve little, if any human plasma products) have become available and are widely used in wealthier western countries. While recombinant clotting factor products offer higher purity and safety, they are, like concentrate, extremely expensive, and not generally available in the developing world. In many cases, factor products of any sort are difficult to obtain in developing countries.<br />
<br />
It was claimed that Rasputin was successful at treating the Tsarevich Alexei of Russia's haemophilia: however, to this day it is unclear how he accomplished this.<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
==External Links==<br />
*[http://goldminer.arrs.org/search.php?query=hemophilia Goldminer: Hemophilia]<br />
* [http://jul.2003.med-bib.com/12828679.htm Immune tolerance induction in patients with haemophilia A with inhibitors]<br />
* [http://www.hemophilia.org National Hemophilia Foundation]<br />
* [http://www.wfh.org/2/1/1_1_3_Link1_Timeline.htm Haemophilia timeline]<br />
* [http://www.haemophilia.org.uk UK Haemophilia Society (charity)]<br />
* [http://www.ehc.eu European Haemophilia Consortium (EHC)]<br />
* [http://www.haemophilia.org.au Haemophilia Foundation Australia (HFA)]<br />
* [http://www.wfh.org World Federation of Hemophilia (WFH)]<br />
* [http://www.haemophiliacare.co.uk Heamophiliacare.co.uk - A resource for patients and carers sponsored by Baxter Healthcare]<br />
* [http://www.taintedblood.info Tainted Blood] <br />
* [http://www.birchgrovegroup.org Birchgrove Group: self-help group for people with Haemophilia and HIV]<br />
* [http://www.livingstories.org.uk Living Stories]<br />
* [http://kidshealth.org/kid/health_problems/blood/hemophilia.html Simple haemophilia overview]<br />
<br />
{{Hematology}}<br />
{{SIB}}<br />
<br />
<br />
[[af:Hemofilie]]<br />
[[ar:نزف الدم الوراثي]]<br />
[[ca:Hemofília]]<br />
[[cs:Hemofilie]]<br />
[[de:Hämophilie]]<br />
[[es:Hemofilia]]<br />
[[eo:Hemofilio]]<br />
[[fr:Hémophilie]]<br />
[[ko:혈우병]]<br />
[[hr:Hemofilija]]<br />
[[id:Hemofilia]]<br />
[[ia:Hemophilia]]<br />
[[it:Emofilia]]<br />
[[he:המופיליה]]<br />
[[nl:Hemofilie]]<br />
[[ja:血友病]]<br />
[[no:Hemofili]]<br />
[[pl:Hemofilia]]<br />
[[pt:Hemofilia]]<br />
[[ro:Hemofilie]]<br />
[[ru:Гемофилия]]<br />
[[sr:Хемофилија]]<br />
[[fi:Verenvuototauti]]<br />
[[sv:Blödarsjuka]]<br />
[[ta:இரத்தம் உறையாமை]]<br />
[[tr:Hemofili]]<br />
[[ur:انس الدم]]<br />
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<br />
[[Category:Hematology]]<br />
[[Category:Genetic disorders]]<br />
<br />
{{WikiDoc Help Menu}}<br />
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Apalmer
https://www.wikidoc.org/index.php?title=WikiPatient:_Genetic_Disorders&diff=569643
WikiPatient: Genetic Disorders
2010-08-06T19:32:37Z
<p>Apalmer: /* H */</p>
<hr />
<div>----<br />
__NOTOC__<br />
<br />
==Genetic Disorders sorted alphabetically==<br />
[[{{PAGENAME}}#22|22]] | [[{{PAGENAME}}#48|48]] | [[{{PAGENAME}}#49|49]] | [[{{PAGENAME}}#A|A]] | [[{{PAGENAME}}#B|B]] | [[{{PAGENAME}}#C|C]] | [[{{PAGENAME}}#D|D]] | [[{{PAGENAME}}#E|E]] | [[{{PAGENAME}}#F|F]] | [[{{PAGENAME}}#G|G]] | [[{{PAGENAME}}#H|H]] | [[{{PAGENAME}}#I|I]] | [[{{PAGENAME}}#K|K]] | [[{{PAGENAME}}#M|M]] | [[{{PAGENAME}}#P|P]] | [[{{PAGENAME}}#S|S]] |[[{{PAGENAME}}#T|T]] | [[{{PAGENAME}}#W|W]] | [[{{PAGENAME}}#X|X]] <br />
----<br />
<br />
==22==<br />
<br />
*[[22q11.2 deletion syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==48==<br />
<br />
*[[48, XXXX]]<br />
<br />
*[[48, XXYY]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==49==<br />
<br />
*[[49, XXXXX]]<br />
<br />
*[[49 XXXXY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==A==<br />
<br />
*[[Adrenoleukodystrophy (patient information)|Adrenoleukodystrophy]]<br />
<br />
*[[Aneuploidy]]<br />
<br />
*[[Angelman syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==B==<br />
<br />
*[[Burkitt's lymphoma (patient information)|Burkitt's lymphoma]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==C==<br />
<br />
*[[Cat eye syndrome]]<br />
<br />
*[[Color blindness (patient information)|Color blindness]]<br />
<br />
*[[Costello syndrome (patient information)|Costello syndrome]]<br />
<br />
*[[Cri du chat (patient information)| Cri du chat]]<br />
<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==D==<br />
<br />
*[[Down syndrome (patient information)|Down syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==E==<br />
<br />
*[[Edwards syndrome (patient information)| Edwards syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==F==<br />
<br />
*[[Fragile X syndrome (patient information)|Fragile X syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==G==<br />
<br />
*[[Gonadal dysgenesis]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==H==<br />
<br />
*[[Hemophilia B (patient information)|Hemophilia B]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==I==<br />
<br />
*[[Ichthyosis vulgaris (patient information)|Ichthyosis vulgaris]]<br />
<br />
*[[IgA nephropathy (patient information)|IgA nephropathy]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==K==<br />
<br />
*[[Klinefelter's syndrome (patient information)|Klinefelter's syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==M==<br />
<br />
*[[Menkes disease (patient information)|Menkes disease]]<br />
<br />
*[[Miller-Dieker syndrome]]<br />
<br />
*[[Mixed gonadal dysgenesis]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==P==<br />
<br />
*[[Patau syndrome (patient information)| Patau syndrome]]<br />
<br />
*[[Philadelphia chromosome]]<br />
<br />
*[[Prader-Willi syndrome (patient information)|Prader-Willi syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==S==<br />
<br />
*[[Smith-Magenis syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==T==<br />
<br />
*[[Triple X syndrome]]<br />
<br />
*[[Trisomy 9]]<br />
<br />
*[[Trisomy 16]]<br />
<br />
*[[Trisomy 22]]<br />
<br />
*[[Turner syndrome (patient information)|Turner syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==W==<br />
<br />
*[[Warkany syndrome 2]]<br />
<br />
*[[Wolf-Hirschhorn syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==X==<br />
<br />
*[[XYY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''</div>
Apalmer
https://www.wikidoc.org/index.php?title=WikiPatient:_Genetic_Disorders&diff=569642
WikiPatient: Genetic Disorders
2010-08-06T19:27:11Z
<p>Apalmer: /* H */</p>
<hr />
<div>----<br />
__NOTOC__<br />
<br />
==Genetic Disorders sorted alphabetically==<br />
[[{{PAGENAME}}#22|22]] | [[{{PAGENAME}}#48|48]] | [[{{PAGENAME}}#49|49]] | [[{{PAGENAME}}#A|A]] | [[{{PAGENAME}}#B|B]] | [[{{PAGENAME}}#C|C]] | [[{{PAGENAME}}#D|D]] | [[{{PAGENAME}}#E|E]] | [[{{PAGENAME}}#F|F]] | [[{{PAGENAME}}#G|G]] | [[{{PAGENAME}}#H|H]] | [[{{PAGENAME}}#I|I]] | [[{{PAGENAME}}#K|K]] | [[{{PAGENAME}}#M|M]] | [[{{PAGENAME}}#P|P]] | [[{{PAGENAME}}#S|S]] |[[{{PAGENAME}}#T|T]] | [[{{PAGENAME}}#W|W]] | [[{{PAGENAME}}#X|X]] <br />
----<br />
<br />
==22==<br />
<br />
*[[22q11.2 deletion syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==48==<br />
<br />
*[[48, XXXX]]<br />
<br />
*[[48, XXYY]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==49==<br />
<br />
*[[49, XXXXX]]<br />
<br />
*[[49 XXXXY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==A==<br />
<br />
*[[Adrenoleukodystrophy (patient information)|Adrenoleukodystrophy]]<br />
<br />
*[[Aneuploidy]]<br />
<br />
*[[Angelman syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==B==<br />
<br />
*[[Burkitt's lymphoma (patient information)|Burkitt's lymphoma]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==C==<br />
<br />
*[[Cat eye syndrome]]<br />
<br />
*[[Color blindness (patient information)|Color blindness]]<br />
<br />
*[[Costello syndrome (patient information)|Costello syndrome]]<br />
<br />
*[[Cri du chat (patient information)| Cri du chat]]<br />
<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==D==<br />
<br />
*[[Down syndrome (patient information)|Down syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==E==<br />
<br />
*[[Edwards syndrome (patient information)| Edwards syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==F==<br />
<br />
*[[Fragile X syndrome (patient information)|Fragile X syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==G==<br />
<br />
*[[Gonadal dysgenesis]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==H==<br />
<br />
*[[Hemophilia (patient information)|Haemophilia]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==I==<br />
<br />
*[[Ichthyosis vulgaris (patient information)|Ichthyosis vulgaris]]<br />
<br />
*[[IgA nephropathy (patient information)|IgA nephropathy]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==K==<br />
<br />
*[[Klinefelter's syndrome (patient information)|Klinefelter's syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==M==<br />
<br />
*[[Menkes disease (patient information)|Menkes disease]]<br />
<br />
*[[Miller-Dieker syndrome]]<br />
<br />
*[[Mixed gonadal dysgenesis]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==P==<br />
<br />
*[[Patau syndrome (patient information)| Patau syndrome]]<br />
<br />
*[[Philadelphia chromosome]]<br />
<br />
*[[Prader-Willi syndrome (patient information)|Prader-Willi syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==S==<br />
<br />
*[[Smith-Magenis syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==T==<br />
<br />
*[[Triple X syndrome]]<br />
<br />
*[[Trisomy 9]]<br />
<br />
*[[Trisomy 16]]<br />
<br />
*[[Trisomy 22]]<br />
<br />
*[[Turner syndrome (patient information)|Turner syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==W==<br />
<br />
*[[Warkany syndrome 2]]<br />
<br />
*[[Wolf-Hirschhorn syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==X==<br />
<br />
*[[XYY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''</div>
Apalmer
https://www.wikidoc.org/index.php?title=WikiPatient:_Genetic_Disorders&diff=569641
WikiPatient: Genetic Disorders
2010-08-06T19:24:34Z
<p>Apalmer: /* H */</p>
<hr />
<div>----<br />
__NOTOC__<br />
<br />
==Genetic Disorders sorted alphabetically==<br />
[[{{PAGENAME}}#22|22]] | [[{{PAGENAME}}#48|48]] | [[{{PAGENAME}}#49|49]] | [[{{PAGENAME}}#A|A]] | [[{{PAGENAME}}#B|B]] | [[{{PAGENAME}}#C|C]] | [[{{PAGENAME}}#D|D]] | [[{{PAGENAME}}#E|E]] | [[{{PAGENAME}}#F|F]] | [[{{PAGENAME}}#G|G]] | [[{{PAGENAME}}#H|H]] | [[{{PAGENAME}}#I|I]] | [[{{PAGENAME}}#K|K]] | [[{{PAGENAME}}#M|M]] | [[{{PAGENAME}}#P|P]] | [[{{PAGENAME}}#S|S]] |[[{{PAGENAME}}#T|T]] | [[{{PAGENAME}}#W|W]] | [[{{PAGENAME}}#X|X]] <br />
----<br />
<br />
==22==<br />
<br />
*[[22q11.2 deletion syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==48==<br />
<br />
*[[48, XXXX]]<br />
<br />
*[[48, XXYY]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==49==<br />
<br />
*[[49, XXXXX]]<br />
<br />
*[[49 XXXXY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==A==<br />
<br />
*[[Adrenoleukodystrophy (patient information)|Adrenoleukodystrophy]]<br />
<br />
*[[Aneuploidy]]<br />
<br />
*[[Angelman syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==B==<br />
<br />
*[[Burkitt's lymphoma (patient information)|Burkitt's lymphoma]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==C==<br />
<br />
*[[Cat eye syndrome]]<br />
<br />
*[[Color blindness (patient information)|Color blindness]]<br />
<br />
*[[Costello syndrome (patient information)|Costello syndrome]]<br />
<br />
*[[Cri du chat (patient information)| Cri du chat]]<br />
<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==D==<br />
<br />
*[[Down syndrome (patient information)|Down syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==E==<br />
<br />
*[[Edwards syndrome (patient information)| Edwards syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==F==<br />
<br />
*[[Fragile X syndrome (patient information)|Fragile X syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==G==<br />
<br />
*[[Gonadal dysgenesis]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==H==<br />
<br />
*[[Haemophilia (patient information)|Haemophilia]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==I==<br />
<br />
*[[Ichthyosis vulgaris (patient information)|Ichthyosis vulgaris]]<br />
<br />
*[[IgA nephropathy (patient information)|IgA nephropathy]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==K==<br />
<br />
*[[Klinefelter's syndrome (patient information)|Klinefelter's syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==M==<br />
<br />
*[[Menkes disease (patient information)|Menkes disease]]<br />
<br />
*[[Miller-Dieker syndrome]]<br />
<br />
*[[Mixed gonadal dysgenesis]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==P==<br />
<br />
*[[Patau syndrome (patient information)| Patau syndrome]]<br />
<br />
*[[Philadelphia chromosome]]<br />
<br />
*[[Prader-Willi syndrome (patient information)|Prader-Willi syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==S==<br />
<br />
*[[Smith-Magenis syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==T==<br />
<br />
*[[Triple X syndrome]]<br />
<br />
*[[Trisomy 9]]<br />
<br />
*[[Trisomy 16]]<br />
<br />
*[[Trisomy 22]]<br />
<br />
*[[Turner syndrome (patient information)|Turner syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==W==<br />
<br />
*[[Warkany syndrome 2]]<br />
<br />
*[[Wolf-Hirschhorn syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==X==<br />
<br />
*[[XYY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''</div>
Apalmer
https://www.wikidoc.org/index.php?title=Hemophilia&diff=569639
Hemophilia
2010-08-06T19:04:28Z
<p>Apalmer: </p>
<hr />
<div><!--Note that haemophilia/hemophilia is a UK/US spelling difference, so as per the usual policy please leave the spelling as is.--><br />
{{Infobox_Disease<br />
| Name = Hemophilia<br />
| Image = Hemophilic pseudotumor.jpg<br />
| Caption = 17-year-old hemophiliac has a pseudotumor of the calcaneus that expands the bone and has stimulated dense new bone formation. <br> <small> [http://www.peir.net Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology] </small><br />
| DiseasesDB = 5555<br />
| DiseasesDB_mult = {{DiseasesDB2|5561}} {{DiseasesDB2|29376}}<br />
| ICD10 = {{ICD10|D|66||d|65}}-{{ICD10|D|68||d|65}}<br />
| ICD9 = {{ICD9|286}}<br />
| ICDO =<br />
| OMIM = 306700<br />
| OMIM_mult = {{OMIM2|306900}} {{OMIM2|264900}}<br />
| MedlinePlus = 000537<br />
| eMedicineSubj = med<br />
| eMedicineTopic = 3528<br />
| MeshID = D025861<br />
}}<br />
{{SI}}<br />
<br />
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''<br />
<br />
{{CMG}}<br />
<br />
{{Editor Help}}<br />
<br />
==Overview==<br />
<br />
'''Hemophilia''' or '''haemophilia''' is the name of a family of [[heredity|hereditary]] [[genetic illness]]es that impair the body's ability to control [[coagulation]]. <br />
<br />
==Differential Diagnosis==<br />
Hemophilia A can be mimicked by [[von Willebrand Disease]]<br />
* von Willebrand Disease type 2A, where decreased levels of von Willebrand Factor can lead to premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 2A is inherited in an autosomal dominant fashion.<br />
* von Willebrand Disease type 2N, where von Willebrand Factor cannot bind Factor VIII<br />
* von Willebrand Disease type 3, where lack of von Willebrand Factor causes premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 3 is inherited in an autosomal recessive fashion.<br />
<br />
==Presentation==<br />
Genetic deficiencies and a rare [[autoimmune disorder]] may lower plasma [[clotting factor]] levels of coagulation factors needed for a normal clotting process. When a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation which is necessary to maintain the blood clot. Therefore, there is no increase in bleeding time with haemophilia because platelets are intact, allowing the formation of these temporary hemostatic plugs (clots). However, "late" bleeding is affected, because these hemostatic plugs are not able to be maintained.<br />
<br />
The bleeding with [[hemorrhage|external]] injury is normal, but incidence of late re-bleeding and [[internal bleeding]] is increased, especially into muscles, joints, or bleeding into closed spaces. Major complications include [[hemarthrosis]], [[hemorrhage]], [[Gastrointestinal bleeding]], and [[menorrhagia]]. <br />
<br />
==Causes==<br />
It is caused by a lack of clotting factors:<br />
* [[Hemophilia A]] has a lack of the clotting [[Factor VIII]]. ([[Hemophilia A]] occurs in 90% of cases.)<br />
* [[Hemophilia B]] has a lack of the clotting [[Factor IX]].<br />
* [[Hemophilia C]] has a lack of the clotting [[Factor XI]].<br />
<br />
==History==<br />
The first record of haemophilia is in the Talmud, Jewish holy text, which states that males did not have to be circumcised if two brothers had already died from the procedure. In the 12th century, the Arab physician Albucasis wrote of a family whose males died of bleeding after minor injuries. Then, in 1803, Dr. John Conrad Otto, a Philadelphia physician, wrote an account about "a hemorrhagic disposition existing in certain families." He recognised that the disorder was hereditary and that it affected males and rarely females. He was able to trace the disease back to a woman who settled near Plymouth in 1720. The first usage of the term "haemophilia" appears in a description of the condition written by Hopff at the University of Zurich in 1828.<ref>{{cite web |url=http://www.hemophilia.ca/en/2.1.2.php |title=The History of haemophilia |accessdate=2007-06-27 |format= |work=}}</ref> In 1937, Patek and Taylor, two doctors from Harvard, discovered [[Factor VII|anti-haemophilic globulin]]. Pavlosky, a doctor from Buenos Aires, found [[Hemophilia A]] and [[Hemophilia B]] to be separate diseases by doing a lab test. This test was done by transferring the blood of one haemophiliac to another haemophiliac. The fact that this corrected the clotting problem showed that there was more than one form of haemophilia.<br />
:''See main article at [[Haemophilia in European royalty]]''<br />
<br />
Haemophilia figured prominently in the history of European royalty and thus is sometimes known as "the royal disease". Queen Victoria passed the mutation to her son Leopold and, through several of her daughters, to various royals across the continent, including the royal families of Spain, Germany, and Russia. Tsarevich Alexei Nikolaevich, son of Nicholas II, was a descendant of Queen Victoria and suffered from haemophilia.<br />
<br />
Prior to 1985, there were no laws enacted to screen blood, even though the technology existed. Corporations decided that the deaths of thousands of young men were more cost efficient than the instalation and usage of the screening equipment. As a result, many haemophilia patients who received untested and unscreened clotting factor prior to 1992 were at an extreme risk for contracting [[HIV]] and [[Hepatitis C]] via these blood products. At a rate of over 90% of the Haemophilia population, over 10,000 people contracted HIV from the tainted blood supply in the United States alone.<br />
<br />
About 18,000 people in the United States have haemophilia. Each year, about 400 babies are born with the disorder. Haemophilia usually occurs in males and less often in females.<br />
<br />
In the UK we now know that of every four baby boys born with Haemophilia, one will be born to a family with no previous history of the condition.<br />
<br />
==Genetic structure==<br />
[[Image:XlinkRecessive.jpg|left|thumb|150px|X-linked recessive inheritance]]<br />
Females possess two X-chromosomes, whereas males have one X and one [[Y chromosome]]. Since the mutations causing the disease are [[recessive gene|recessive]], a woman carrying the defect on one of her X-chromosomes may not be affected by it, as the equivalent [[allele]] on her other chromosome should express itself to produce the necessary clotting factors. However the Y-chromosome in men has no [[gene]] for factors VIII or IX. <br />
<br />
If the genes responsible for production of [[factor VIII]] or [[factor IX]] present on a male's X-chromosome is deficient there is no equivalent on the Y-chromosome, so the deficient gene is not masked by the [[autosomal|dominant]] allele and he will develop the illness.<br />
<br />
Since a male receives his single X-chromosome from his mother, the son of a healthy female silently carrying the deficient gene will have a 50% chance of inheriting that gene from her and with it the disease; and if his mother is affected with haemophilia, he will have a 100% chance of being a haemophiliac. <br />
<br />
In contrast, for a female to inherit the disease, she must receive two deficient X-chromosomes, one from her mother and the other from her father (who must therefore be a haemophiliac himself). Hence haemophilia is far more common among males than females. However it is possible for female carriers to become mild haemophiliacs due to [[lyonisation]] of the X chromosomes. <br />
<br />
Haemophiliac daughters are more common than they once were, as improved treatments for the disease have allowed more haemophiliac males to survive to adulthood and become parents. Adult females may experience [[menorrhagia]] (heavy periods) due to the bleeding tendency. The pattern of inheritance is criss-cross type. This type of pattern is also seen in [[color blindness]]. <br />
<br />
As with all genetic disorders, it is of course also possible for a human to acquire it spontaneously ([[mutation|de novo]]), rather than inheriting it, because of a new mutation in one of their parents' gametes. Spontaneous mutations account for about ⅓ of all [[haemophilia A]] and 20% of all [[haemophilia B]] cases. <br />
<br />
[[Genetic testing]] and [[genetic counseling]] is recommended for families with haemophilia. [[Prenatal testing]], such as [[amniocentesis]], is available to pregnant women who may be carriers of the condition.<br />
<br />
===Probability===<br />
<br />
If a female gives birth to a haemophiliac child, either the female is a carrier for the disease or the haemophilia was the result of a [[mutation|spontaneous mutation]]. Until modern direct [[Genetic fingerprinting|DNA testing]], however, it was impossible to determine if a female with only healthy children was a carrier or not. Generally, the more healthy sons she bore, the higher the probability that she was not a carrier. If the [[Rhesus blood group system|RH factor]] of the born male is different from the mother, the child will not be affected.<br />
<br />
If a male is afflicted with the disease and has children, his daughters will be carriers of haemophilia. His sons, however, will not be affected with the disease. This is because the disease is X-linked and the father can not pass haemophilia through the Y chromosome.<br />
<br />
==Diagnostic Findings <small> <ref>Hermann, G, Gilbert, MS, Abdelwahab, IF [http://www.ajronline.org/cgi/content/abstract/158/1/119 Hemophilia: evaluation of musculoskeletal involvement with CT, sonography, and MR imaging]. Am. J. Roentgenol. 1992 158: 119-123.</ref> <ref>Jaume Llauger, Jaume Palmer, Núria Rosón, Sílvia Bagué, Àngels Camins, and Rosa Cremades. [http://radiographics.rsnajnls.org/cgi/content/abstract/20/suppl_1/S263 Nonseptic Monoarthritis: Imaging Features with Clinical and Histopathologic Correlation.] RadioGraphics 2000 20: 263S-278S.</ref> </small>==<br />
<br />
Findings vary greatly with the different stages of hemophilic arthropathy (acute, subacute, or chronic hemarthrosis)<br />
<br />
Images reflect the presence of hemarthrosis (joint effusion), synovial inflammation and hyperemia ([[osteoporosis]] and epiphyseal overgrowth), chondral erosions and subchondral resorption (osseous erosions and cysts), cartilaginous denudation (joint space narrowing), intraosseous or subperiosteal hemorrhage (pseudotumors), and osseous proliferation (sclerosis and [[osteophyte]]s). <br />
<br />
Some abnormalities of osseous shape, such as '''widening of the intercondylar notch, flattening of the condylar surface, or squaring of the patella, are very characteristic of chronic hemarthrosis of the knee'''.<br />
<br />
* The clinical and radiologic features of patients with classic hemophilia and Christmas disease are virtually identical. <br />
* Hemorrhage most often occurs in the synovial joints. In descending order, the knee, ankle, elbow, shoulder, and hip are involved.<br />
* Repetitive bleeding into the musculoskeletal system is the most common complication of both conditions. <br />
* Bleeding into the joints leads to hemophilic arthropathy. <br />
* Bleeding into muscles causes joint contractures<br />
* Bleeding into bone and adjacent soft tissues results in osseous and soft-tissue pseudotumors.<br />
<br />
===X-ray===<br />
<br />
([http://www.radswiki.net Images courtesy of RadsWiki])<br />
<br />
<gallery><br />
Image:Hemophilia-001.jpg|Hemophilic arthropathy involving the bilateral knees<br />
Image:Hemophilia-002.jpg|Hemophilic arthropathy involving the bilateral knees<br />
Image:Hemophilia-003.jpg|Hemophilic arthropathy involving the bilateral knees<br />
Image:Hemophilia-004.jpg|Hemophilic arthropathy involving the bilateral knees<br />
</gallery><br />
<br />
<br />
<gallery><br />
Image:Hemophilia_ankle_101.jpg|X-ray of the ankle in a patient with Hemophilia<br />
Image:Hemophilia_ankle_102.jpg|X-ray of the ankle in a patient with Hemophilia<br />
Image:Hemophilia_ankle_103.jpg|X-ray of the ankle in a patient with Hemophilia<br />
</gallery><br />
<br />
<br />
<gallery><br />
Image:Hemophilia_knee_101.jpg|X-ray of the knee in a patient with Hemophilia<br />
Image:Hemophilia_knee_102.jpg|X-ray of the knee in a patient with Hemophilia<br />
</gallery><br />
<br />
===Computed Tomography===<br />
<br />
([http://www.radswiki.net Images courtesy of RadsWiki])<br />
<br />
<gallery><br />
Image:Hemophilia-kidney-001.jpg|CT: Hemophilia. Bleeding into Kidney<br />
Image:Hemophilia-kidney-002.jpg|CT: Hemophilia. Bleeding into Kidney<br />
Image:Hemophilia-kidney-003.jpg|CT: Hemophilia. Bleeding into Kidney<br />
</gallery><br />
<br />
===MRI===<br />
<br />
([http://www.radswiki.net Images courtesy of RadsWiki])<br />
<br />
<gallery><br />
Image:Hemophilia ankle MRI 104.jpg|Ankle MRI in a patient with Hemophilia<br />
Image:Hemophilia ankle MRI 105.jpg|Ankle MRI in a patient with Hemophilia<br />
</gallery><br />
<br />
<br />
<gallery><br />
Image:Hemophilia knee MRI 103.jpg|Knee MRI in a patient with Hemophilia<br />
Image:Hemophilia knee MRI 104.jpg|Knee MRI in a patient with Hemophilia<br />
Image:Hemophilia knee MRI 105.jpg|Knee MRI in a patient with Hemophilia<br />
</gallery><br />
<br />
==Treatment==<br />
<br />
Though there is no cure for haemophilia, it can be controlled with '''regular infusions''' of the deficient clotting factor, i.e. [[factor VIII]] in haemophilia A or [[factor IX]] in haemophilia B. Some haemophiliacs develop antibodies (inhibitors) against the replacement factors given to them, so the amount of the factor has to be increased or non-human replacement products must be given, such as [[porcine]] factor VIII Troy.<br />
<br />
If a patient becomes refractory to replacement coagulation factor as a result of circulating inhibitors, this may be overcome with recombinant human [[factor VII]] (NovoSeven®), which is registered for this indication in many countries.<br />
<br />
In western countries, common standards of care fall into one of two categories: prophylaxis or on-demand. Prophylaxis involves the infusion of clotting factor on a regular schedule in order to keep clotting levels sufficiently high to prevent spontaneous bleeding episodes. On-demand treatment involves treating bleeding episodes once they arise. In 2007, a clinical trial was published in the New England Journal of Medicine comparing on-demand treatment of boys (< 30 months) with Haemophilia A with prophylactic treatment (infusions of 25 IU/kg body weight of [[Factor VIII]] every other day) in respect to its effect on the prevention of joint-diseases. When the boys reached 6 years of age, 93% of those in the prophylaxis group and 55% of those in the episodic-therapy group had a normal index joint-structure on [[MRI]]. <ref> Manco-Johnson MJ, Abshire TC, Shapiro AD, Riske B, Hacker MR, Kilcoyne R, Ingram JD, Manco-Johnson ML, Funk S, Jacobson L, Valentino LA, Hoots WK, Buchanan GR, DiMichele D, Recht M, Brown D, Leissinger C, Bleak S, Cohen A, Mathew P, Matsunaga A, Medeiros D, Nugent D, Thomas GA, Thompson AA, McRedmond K, Soucie JM, Austin H, Evatt BL. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe haemophilia. N Engl J Med. 2007 Aug 9;357(6):535-44. PMID 17687129 </ref> Prophylactic treatment, however, resulted in average costs of $300,000 per year. The author of an editorial published in the same issue of the New England Journal of Medicine demands more clinical studies addressing the cost-effectiveness of prophylactic treatment. <ref> Roosendaal G, Lafeber F. Prophylactic treatment for prevention of joint disease in haemophilia--cost versus benefit. N Engl J Med. 2007 Aug 9;357(6):603-5. PMID 17687136 </ref><br />
<br />
As a direct result of the contamination of the blood supply in the late 1970s and early/mid 1980s with viruses such as [[Hepatitis]] and [[HIV]], new methods were developed in the production of clotting factor products. The initial response was to heat-treat ([[pasteurize]]) plasma-derived factor concentrate, followed by the development of monoclonal factor concentrates, which use a combination of heat treatment and affinity chromatography to inactivate any viral agents in the pooled plasma from which the factor concentrate is derived. The [[Lindsay Tribunal]] in Ireland investigated, among other things, the slow adoption of the new methods.<br />
<br />
Since 1993 (Dr. Mary Nugent), recombinant factor products (which are typically cultured in Chinese hamster ovary ([[Chinese Hamster Ovary cell|CHO]]) tissue culture cells and involve little, if any human plasma products) have become available and are widely used in wealthier western countries. While recombinant clotting factor products offer higher purity and safety, they are, like concentrate, extremely expensive, and not generally available in the developing world. In many cases, factor products of any sort are difficult to obtain in developing countries.<br />
<br />
It was claimed that Rasputin was successful at treating the Tsarevich Alexei of Russia's haemophilia: however, to this day it is unclear how he accomplished this.<br />
<br />
==References==<br />
{{reflist|2}}<br />
<br />
==External Links==<br />
*[http://goldminer.arrs.org/search.php?query=hemophilia Goldminer: Hemophilia]<br />
* [http://jul.2003.med-bib.com/12828679.htm Immune tolerance induction in patients with haemophilia A with inhibitors]<br />
* [http://www.hemophilia.org National Hemophilia Foundation]<br />
* [http://www.wfh.org/2/1/1_1_3_Link1_Timeline.htm Haemophilia timeline]<br />
* [http://www.haemophilia.org.uk UK Haemophilia Society (charity)]<br />
* [http://www.ehc.eu European Haemophilia Consortium (EHC)]<br />
* [http://www.haemophilia.org.au Haemophilia Foundation Australia (HFA)]<br />
* [http://www.wfh.org World Federation of Hemophilia (WFH)]<br />
* [http://www.haemophiliacare.co.uk Heamophiliacare.co.uk - A resource for patients and carers sponsored by Baxter Healthcare]<br />
* [http://www.taintedblood.info Tainted Blood] <br />
* [http://www.birchgrovegroup.org Birchgrove Group: self-help group for people with Haemophilia and HIV]<br />
* [http://www.livingstories.org.uk Living Stories]<br />
* [http://kidshealth.org/kid/health_problems/blood/hemophilia.html Simple haemophilia overview]<br />
<br />
{{Hematology}}<br />
{{SIB}}<br />
<br />
<br />
[[af:Hemofilie]]<br />
[[ar:نزف الدم الوراثي]]<br />
[[ca:Hemofília]]<br />
[[cs:Hemofilie]]<br />
[[de:Hämophilie]]<br />
[[es:Hemofilia]]<br />
[[eo:Hemofilio]]<br />
[[fr:Hémophilie]]<br />
[[ko:혈우병]]<br />
[[hr:Hemofilija]]<br />
[[id:Hemofilia]]<br />
[[ia:Hemophilia]]<br />
[[it:Emofilia]]<br />
[[he:המופיליה]]<br />
[[nl:Hemofilie]]<br />
[[ja:血友病]]<br />
[[no:Hemofili]]<br />
[[pl:Hemofilia]]<br />
[[pt:Hemofilia]]<br />
[[ro:Hemofilie]]<br />
[[ru:Гемофилия]]<br />
[[sr:Хемофилија]]<br />
[[fi:Verenvuototauti]]<br />
[[sv:Blödarsjuka]]<br />
[[ta:இரத்தம் உறையாமை]]<br />
[[tr:Hemofili]]<br />
[[ur:انس الدم]]<br />
[[zh:血友病]]<br />
<br />
[[Category:Hematology]]<br />
[[Category:Genetic disorders]]<br />
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Apalmer
https://www.wikidoc.org/index.php?title=WikiPatient:_Genetic_Disorders&diff=569638
WikiPatient: Genetic Disorders
2010-08-06T19:00:40Z
<p>Apalmer: /* C */</p>
<hr />
<div>----<br />
__NOTOC__<br />
<br />
==Genetic Disorders sorted alphabetically==<br />
[[{{PAGENAME}}#22|22]] | [[{{PAGENAME}}#48|48]] | [[{{PAGENAME}}#49|49]] | [[{{PAGENAME}}#A|A]] | [[{{PAGENAME}}#B|B]] | [[{{PAGENAME}}#C|C]] | [[{{PAGENAME}}#D|D]] | [[{{PAGENAME}}#E|E]] | [[{{PAGENAME}}#F|F]] | [[{{PAGENAME}}#G|G]] | [[{{PAGENAME}}#H|H]] | [[{{PAGENAME}}#I|I]] | [[{{PAGENAME}}#K|K]] | [[{{PAGENAME}}#M|M]] | [[{{PAGENAME}}#P|P]] | [[{{PAGENAME}}#S|S]] |[[{{PAGENAME}}#T|T]] | [[{{PAGENAME}}#W|W]] | [[{{PAGENAME}}#X|X]] <br />
----<br />
<br />
==22==<br />
<br />
*[[22q11.2 deletion syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==48==<br />
<br />
*[[48, XXXX]]<br />
<br />
*[[48, XXYY]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==49==<br />
<br />
*[[49, XXXXX]]<br />
<br />
*[[49 XXXXY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==A==<br />
<br />
*[[Adrenoleukodystrophy (patient information)|Adrenoleukodystrophy]]<br />
<br />
*[[Aneuploidy]]<br />
<br />
*[[Angelman syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==B==<br />
<br />
*[[Burkitt's lymphoma (patient information)|Burkitt's lymphoma]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==C==<br />
<br />
*[[Cat eye syndrome]]<br />
<br />
*[[Color blindness (patient information)|Color blindness]]<br />
<br />
*[[Costello syndrome (patient information)|Costello syndrome]]<br />
<br />
*[[Cri du chat (patient information)| Cri du chat]]<br />
<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==D==<br />
<br />
*[[Down syndrome (patient information)|Down syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==E==<br />
<br />
*[[Edwards syndrome (patient information)| Edwards syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==F==<br />
<br />
*[[Fragile X syndrome (patient information)|Fragile X syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==G==<br />
<br />
*[[Gonadal dysgenesis]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==H==<br />
<br />
*[[Haemophilia]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==I==<br />
<br />
*[[Ichthyosis vulgaris (patient information)|Ichthyosis vulgaris]]<br />
<br />
*[[IgA nephropathy (patient information)|IgA nephropathy]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==K==<br />
<br />
*[[Klinefelter's syndrome (patient information)|Klinefelter's syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==M==<br />
<br />
*[[Menkes disease (patient information)|Menkes disease]]<br />
<br />
*[[Miller-Dieker syndrome]]<br />
<br />
*[[Mixed gonadal dysgenesis]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==P==<br />
<br />
*[[Patau syndrome (patient information)| Patau syndrome]]<br />
<br />
*[[Philadelphia chromosome]]<br />
<br />
*[[Prader-Willi syndrome (patient information)|Prader-Willi syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==S==<br />
<br />
*[[Smith-Magenis syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==T==<br />
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*[[Triple X syndrome]]<br />
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*[[Trisomy 9]]<br />
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*[[Trisomy 16]]<br />
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*[[Trisomy 22]]<br />
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*[[Turner syndrome (patient information)|Turner syndrome]]<br />
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''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==W==<br />
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*[[Warkany syndrome 2]]<br />
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*[[Wolf-Hirschhorn syndrome]]<br />
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''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==X==<br />
<br />
*[[XYY syndrome]]<br />
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''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''</div>
Apalmer
https://www.wikidoc.org/index.php?title=Color_blindness&diff=569637
Color blindness
2010-08-06T18:55:01Z
<p>Apalmer: </p>
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<div>{{Infobox_Disease<br />
| Name = Color blindness<br />
| Image = <br />
| Caption = <br />
| DiseasesDB = 2999<br />
| ICD10 = {{ICD10|H|53|5|h|53}}<br />
| ICD9 = {{ICD9|368.5}}<br />
| ICDO = <br />
| OMIM = <br />
| MedlinePlus = <br />
| eMedicineSubj = <br />
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}}<br />
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{{SI}}<br />
<br />
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''<br />
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{{CMG}}<br />
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{{EH}}<br />
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==Overview==<br />
'''Color blindness''', a [[color vision]] deficiency in [[human]]s, is the inability to perceive differences between some of the [[color]]s that other people can distinguish. It is most often of [[gene]]tic nature, but may also occur because of [[eye]], [[nerve]], or [[brain]] damage, or due to exposure to certain [[chemical]]s. The English chemist [[John Dalton]] in 1798 published the first [[science|scientific]] paper on the subject, "Extraordinary facts relating to the vision of colours",<ref name="dalton">Dalton J, 1798 "Extraordinary facts relating to the vision of colours: with observations" ''Memoirs of the Literary and Philosophical Society of Manchester'' '''5''' 28-45</ref><br />
after the realization of his own color blindness; because of Dalton's work, the condition is sometimes called '''Daltonism''', although this term is now used for a type of color blindness called [[#Red-green color blindness|deuteranopia]].<br />
<br />
Color blindness is usually classed as [[disability]]; however, in selected situations color blind people have an advantage over people with normal color vision. There are some studies which conclude that color blind individuals are better at penetrating certain camouflages.<ref>Morgan MJ, Adam A, Mollon JD. "Dichromats detect colour-camouflaged objects that are not detected by trichromats." ''Proc Biol Sci.'' 1992 Jun 22;248(1323):291-5. PMID 1354367.</ref> [[Monochromat]]s may have a minor advantage in dark vision, but only in the first five and a half minutes of dark adaptation.<br />
<br />
[[Image:US Flag color blind.png|left|thumb|250px|An 1895 illustration of normal vision and various kinds of color blindness]]<br />
<br />
==Background==<br />
<br />
{{main|Trichromatic color vision}}<br />
The normal human [[retina]] contains two kinds of light cells: the [[rod cell]]s ([[Scotopic vision|active in low light]]) and the [[cone cell]]s ([[Photopic vision|active in normal daylight]]). Normally, there are three kinds of cones, each containing a different pigment. The cones are activated when the pigments absorb light. The [[absorption spectrum|absorption spectra]] of the cones differ; one is maximally sensitive to short wavelengths, one to medium wavelengths, and the third to long wavelengths (their peak sensitivities are in the blue, yellowish-green, and yellow regions of the spectrum, respectively). The absorption spectra of all three systems cover much of the visible spectrum, so it is not entirely accurate to refer to them as "[[blue]]", "[[green]]" and "[[red]]" receptors, especially because the "red" receptor actually has its peak sensitivity in the [[yellow]]. The sensitivity of normal color vision actually depends on the overlap between the absorption spectra of the three systems: different colors are recognized when the different types of cone are stimulated to different extents. Red light, for example, stimulates the long wavelength cones much more than either of the others, and reducing wavelength causes the other two cone systems to be increasingly stimulated, causing a gradual change in hue. Many of the genes involved in color vision are on the X chromosome, making color blindness more common in males than in females.<br />
<br />
==Causes==<br />
Any recessive genetic characteristic that persists at a level as high as 5% is generally regarded as possibly having some advantage over the long term. In WWII it was discovered that analysis of color aerial photos yielded more information if at least one team member was color blind. <br />
Significantly, humans are the only trichromatic primates with such a high percentage of color blindness.<ref>Onishi, A., Koike, S., Ida, M., Imai, H., Shichida, Y., Takenaka, O., et al. (1999). Dichromatism in macaque monkeys. Nature, 402,139-140.</ref><br />
As the color blind test example (next to analysis) demonstrates, color blind people see different patterns. WWII teams that analyzed aerial photographs were looking for unusual patterns, so a color blind person could prove useful. From an evolutionary perspective a hunting group will be more effective if it includes a color blind hunter (one in twenty) who can spot prey that others cannot.<br />
<br />
Another possible advantage could be due to the presence of tetrachromic female. Owing to X-chromosome inactivation, women who are heterozygous for anomalous trichromacy ought to have at least four types of cone in their retinae. It is possible that this affords them an extra dimension of color vision, by analogy to New World monkeys where heterozygous females gain trichromacy in a basically dichromatic species.<ref>Jordan G, Mollon JD.,A study of women heterozygous for colour deficiencies. Vision Res. 1993 Jul;33(11):1495-508.<br />
Jameson K.A., Richer color experience in observer with multiple photopigment opsin genes, Psychomomic Bulletin & Review, 2001, 8(2),244-261</ref><br />
<br />
===Genetic modes of inheritance===<br />
Color blindness can be inherited genetically. Some people believe, incorrectly, that it is only ever inherited from mutations on the X chromosome. Since the mapping of the human genome there have been many causative mutations discovered. Mutations capable of causing color blindness originate from at least 19 different chromosomes and many different genes (as shown online at the Online Mendelian Inheritance in Man (OMIM) database at John Hopkins University). Cone Dystrophy, Cone-Rod Dystrophy, Achromatopsia (aka Rod Monochromatism, aka Stationery Cone Dystrophy, aka Cone Dysfunction Syndrome), Blue Cone Monochromatism, Retinitis Pigmentosa (initially affects rods but can later progress to cones and therefore color blindness), Diabetes, Age-Related Macular Degeneration, Retinoblastoma, Lebers Congenital Amorosis - These are some of the inherited diseases known to cause color blindness.<br />
<br />
Inherited color blindness can be congenital (from birth), or it can commence in childhood or adulthood. Depending on the mutation, it can be stationary, that is, remain the same throughout a person's lifetime, or progressive. Because of the nature of progressive phenotypes deteriorating the retina and other parts of the eye, certain forms of color blindness can progress to legal blindness, i.e., an acuity of 6/60 or worse, and often leave a person with complete blindness.<br />
<br />
Color blindness always pertains to the cone photoreceptors in our retina as the cones are capable of detecting the color frequencies of light we perceive. There are 3 types of cones, each responsible for detecting either red, green or blue.<br />
<br />
About two percent of females and eight percent of males are color blind (Sewell, 1983). The reason males are at a greater risk of inheriting an X linked mutation is because males only have one X chromosome (XY), and females have two (XX). In color blindness caused by mutations on the X chromosome there is a 50% chance of male offspring being affected and a 50% chance of female offspring being carriers. Nature usually deals with mutated genes by expressing the healthy copy in offspring. Males only receive one copy and are therefore more vulnerable to mutations on the X chromosome being passed to them by their mothers. If the X chromosome passed to a male carries a color blindness causing mutation then the male will be color blind because there is no chance of another X chromosome silencing the mutation. If one of the X chromosomes of a female carries the gene for color blindness, generally the other will not, so there is a dominant gene to take the place of the recessive one.<br />
<br />
===Other causes===<br />
<br />
Shaken Baby Syndrome (this can cause damage to the retina and brain damage and therefore cause color blindness);<br />
Accidents and other trauma to the retina and brain;<br />
UV damage (not wearing appropriate protection). Most UV damage is caused during childhood and this form of retinal degeneration is the leading cause of blindness in the world. Damage often presents later in life.<br />
<br />
===Types===<br />
<br />
There are many types of color blindness. The most common are red-green hereditary (genetic) photoreceptor disorders, but it is also possible to acquire color blindness through damage to the retina, optic nerve, or higher brain areas. Higher brain areas implicated in color processing include the parvocellular pathway of the [[lateral geniculate nucleus]] of the [[thalamus]], and [[visual area V4]] of the [[visual cortex]]. Acquired color blindness is generally unlike the more typical genetic disorders. For example, it is possible to acquire color blindness only in a portion of the visual field but maintain normal color vision elsewhere. Some forms of acquired color blindness are reversible. Transient color blindness also occurs (very rarely) in the [[Aura (symptom)|aura]] of some [[migraine]] sufferers. <br />
<br />
The different kinds of inherited color blindness result from partial or complete loss of function of one or more of the different cone systems. When one cone system is compromised, [[dichromat|dichromacy]] results. The most frequent forms of human color blindness result from problems with either the middle or long wavelength sensitive cone systems, and involve difficulties in discriminating reds, yellows, and greens from one another. They are collectively referred to as "red-green color blindness", though the term is an over-simplification and is somewhat misleading. Other forms of color blindness are much more rare. They include problems in discriminating blues from yellows, and the rarest forms of all, complete color blindness or ''[[monochromacy]]'', where one cannot distinguish any color from [[gray (color)|grey]], as in a [[black-and-white]] movie or photograph.<br />
<br />
==Classification of color deficiencies==<br />
===By etiology===<br />
<!-- Before removing these images, please review the Talk archives. If you do remove them, please explain why on the Talk page. --><br />
[[Image:Gay flag.svg|thumb|left|The colors of the rainbow as viewed by a person with no color vision deficiencies.]] <br />
[[Image:Rainbow Protanopia.svg|thumb|left|The colors of the rainbow as viewed by a person with protanopia.]]<br />
[[Image:Rainbow Deuteranopia.svg|thumb|left|The colors of the rainbow as viewed by a person with deuteranopia.]]<br />
[[Image:Rainbow Tritanopia.svg|thumb|left|The colors of the rainbow as viewed by a person with tritanopia.]]<br />
Color vision deficiencies can be classified as acquired or inherited.<ref name="UIEC">[http://www.uic.edu/com/eye/LearningAboutVision/EyeFacts/ColorBlindness.shtml "Color Blindness."] University of Illinois Eye Center, Department of Ophthalmology and Visual Sciences. Accessed September 29, 2006.</ref><ref name="Kokotailo">Kokotailo R, Kline D. [http://psychology.ucalgary.ca/pace/VA-Lab/colourperceptionweb/congenital.htm "Congenital Colour Vision Deficiencies."] University of Calgary, Department of Psychology, Vision & Aging Lab. Accessed September 29, 2006.</ref><br />
*Acquired<br />
<!-- Are there any?? --><br />
*Inherited: There are three types of inherited or congenital color vision deficiencies: monochromacy, dichromacy, and anomalous trichromacy.<ref name="UIEC"/><br />
:*[[Monochromacy]], also known as "total color blindness",<ref name="Tiresias">[http://www.tiresias.org/guidelines/colour_blindness.htm "Guidelines: Color Blindness."] Tiresias.org. Accessed September 29, 2006.</ref> is the lack of ability to distinguish colors; caused by cone defect or absence.<ref name="Cassin">Cassin, B. and Solomon, S. ''Dictionary of Eye Terminology''. Gainsville, Florida: Triad Publishing Company, 1990.</ref> Monochromacy occurs when two or all three of the cone pigments are missing and color and lightness vision is reduced to one dimension.<ref name="Tiresias"/><br />
::*[[Achromatopsia|Rod monochromacy]] (achromatopsia) is a rare, nonprogressive inability to distinguish any colors as a result of absent or nonfunctioning retinal cones. It is associated with light sensitivity ([[photophobia]]), involuntary eye oscillations ([[nystagmus]]), and poor vision.<ref name="Cassin"/><br />
::*Cone monochromacy is a rare, total color blindness that is accompanied by relatively normal vision, electoretinogram, and electrooculogram.<ref name="Cassin"/><br />
:*[[Dichromacy]] is a moderately severe color vision defect in which one of the three basic color mechanisms is absent or not functioning. It is hereditary and sex-linked, affecting predominantly males.<ref name="Cassin"/> Dichromacy occurs when one of the cone pigments is missing and color is reduced to two dimensions.<ref name="Tiresias"/><br />
::*Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. It is a form of dichromatism in which red appears dark. It is hereditary, sex-linked, and present in 1% of all males.<ref name="Cassin"/><br />
::*Deuteranopia is a color vision deficiency in which the green retinal photoreceptors are absent, moderately affecting red-green hue discrimination. It is a form of dichromatism in which there are only two cone pigments present. It is likewise hereditary, sex-linked, and present in 1% of all males.<ref name="Cassin"/><br />
::*Tritanopia is an exceedingly rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors.<ref name="Cassin"/><br />
:*Anomalous [[trichromacy]] is a common type of inherited color vision deficiency, occurring when one of the three cone pigments is altered in its spectral sensitivity. This results in an impairment, rather than loss, of trichromacy (normal three-dimensional color vision).<ref name="Tiresias"/><br />
::*Protanomaly is a mild color vision defect in which an altered spectral sensitivity of red retinal receptors (closer to green receptor response) results in poor red-green hue discrimination. It is hereditary, sex-linked, and present in 1% of all males. It is often passed from mother to child.<ref name="Cassin"/><br />
::*Deuteranomaly, caused by a similar shift in the green retinal receptors, is by far the most common type of color vision deficiency, mildly affecting red-green hue discrimination in 5% of all males. It is hereditary and sex-linked.<ref name="Cassin"/><br />
::*Tritanomaly is a rare, hereditary color vision deficiency affecting blue-yellow hue discrimination.<ref name="Cassin"/><br />
<br />
===By clinical appearance=== <br />
<br />
Based on clinical appearance, color blindness may be described as total or partial. Total color blindness is much less common than partial color blindness.<ref>{{cite web|url=http://micro.magnet.fsu.edu/primer/lightandcolor/humanvisionhome.html|title=Human Vision and Color Perception|publisher=Florida State University|author=Spring, Kenneth R.|coauthors=Matthew J. Parry-Hill; Thomas J. Fellers; Michael W. Davidson|accessdate=2007-04-05}}</ref> There are two major types of color blindness: those who have difficulty distinguishing between red and green, and those who have difficulty distinguishing between blue and yellow.<ref>{{cite web|url=http://www.cognetics.com/papers/others/paul/colorblind2.pdf|format=PDF|title=Accommodating Color Blindness|author=Paul S. Hoffman|accessdate=2007-04-05}}</ref><ref>{{cite web|url=http://healthlink.mcw.edu/article/999211295.html|title=Severity of Colorblindness Varies|author=Neitz, Maureen E., PhD|publisher=Medical College of Wisconsin|accessdate=2007-04-05}}</ref><br />
*Total color blindness<br />
*Partial color blindness<br />
:*Red-green<br />
::*Dichromacy (protanopia and deuteranopia)<br />
::*Anomalous trichromacy (protanomaly and deuteranomaly)<br />
:*Blue-yellow<br />
::*Dichromacy (tritanopia)<br />
::*Anomalous trichromacy (tritanomaly)<br />
<br />
==Congenital color vision deficiencies==<br />
<br />
Congenital color vision deficiencies are subdivided based on the number of primary hues needed to match a given sample in the [[visible spectrum]].<br />
<br />
===Monochromacy===<br />
<br />
[[Monochromacy]] is the condition of possessing only a single channel for conveying information about color.<ref name="Byrne">Byrne A, Hilbert D. [http://tigger.uic.edu/~hilbert/Glossary.html "A Glossary of Color Science."] Originally published in ''Readings on Color, Volume 2: The Science of Color.'' (MIT Press, 1997). Accessed November 7, 2006.</ref> Monochromats possess a complete inability to distinguish any colors and perceive only variations in brightness.<ref name="Byrne"/> It occurs in two primary forms: <br />
# '''[[Rod monochromacy]]''', frequently called ''achromatopsia'', where the retina contains no cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. While normally rare, achromatopsia is very common on the island of [[Pingelap]], a part of the [[Pohnpei]] state, [[Federated States of Micronesia]], where it is called ''maskun'': about 1/12 of the population there has it. The island was devastated by a storm in the 18th century, and one of the few male survivors carried a gene for achromatopsia; the population is now several thousand, of whom about 30% carry this gene.<br />
# '''[[Cone monochromacy]]''' is the condition of having both rods and cones, but only a single kind of cone. A cone monochromat can have good pattern vision at normal daylight levels, but will not be able to distinguish hues. ''' Blue cone monochromacy (X chromosome)''' is caused by a complete absence of L- and M-cones. It is encoded at the same place as red-green color blindness on the X chromosome. Peak spectral sensitivities are in the blue region of the visible spectrum (near 440 nm). They generally show [[nystagmus]] ("jiggling eyes"), photophobia (light sensitivity), reduced [[visual acuity]], and myopia (nearsightedness).<ref>*Weiss AH, et al 1989. [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2795409&dopt=Abstract "Blue cone monochromatism"] '' J Pediatr Ophthalmol Strabismus''. 1989; 11: 315-7</ref></blockquote> Visual acuity usually falls to the 20/50 to 20/400 range<br />
<br />
===Dichromacy===<br />
<br />
Protanopes, deuteranopes, and tritanopes are dichromats; that is, they can match any color they see with some mixture of just two spectral lights (whereas normally humans are [[trichromat]]s and require three lights). These individuals normally know they have a color vision problem and it can affect their lives on a daily basis. Protanopes and deuteranopes see no perceptible difference between red, orange, yellow, and green. All these colors that seem so different to the normal viewer appear to be the same color for this two percent of the population.<br />
<br />
<!-- Before removing these images, please review the Talk archives. If you do remove them, please explain why on the Talk page. --><br />
[[Image:Colorblind3.png|thumb|left|This image shows the number 37, but someone who is protanopic may not be able to see it. (Note: the number in this and the next two images may not be visible on LCD screens or with excessive screen glare.)]]<br />
<br />
* '''Protanopia''' (1% of males): Lacking the long-wavelength sensitive retinal cones, those with this condition are unable to distinguish between colors in the green-yellow-red section of the spectrum. They have a neutral point at a greenish wavelength around 492 [[nanometre|nm]] – that is, they cannot discriminate light of this wavelength from white. For the protanope, the brightness of red, orange, and yellow is much reduced compared to normal. This dimming can be so pronounced that reds may be confused with black or dark gray, and red traffic lights may appear to be extinguished. They may learn to distinguish reds from yellows and from greens primarily on the basis of their apparent brightness or lightness, not on any perceptible hue difference. Violet, lavender, and purple are indistinguishable from various shades of blue because their reddish components are so dimmed as to be invisible. E.g. Pink flowers, reflecting both red light and blue light, may appear just blue to the protanope. Very few people have been found who have one normal eye and one protanopic eye. These ''unilateral dichromats'' report that with only their protanopic eye open, they see wavelengths below the neutral point as blue and those above it as yellow. This is a rare form of color blindness. <br />
<br />
<!-- Before removing these images, please review the Talk archives. If you do remove them, please explain why on the Talk page. --><br />
[[Image:Colorblind4.png|left|thumb|This image shows a number 44 or 49, but someone who is deuteranopic may not be able to see it.]]<br />
* '''Deuteranopia''' (1% of males): Lacking the medium-wavelength cones, those affected are again unable to distinguish between colors in the green-yellow-red section of the spectrum. Their neutral point is at a slightly longer wavelength, 498 nm. The deuteranope suffers the same hue discrimination problems as the protanope, but without the abnormal dimming. The names red, orange, yellow, and green really mean very little to him aside from being different names that every one else around him seems to be able to agree on. Similarly, violet, lavender, purple, and blue, seem to be too many names to use logically for hues that all look alike to him. This is one of the rarer forms of colorblindness making up about 1% of the male population, also known as ''Daltonism'' after [[John Dalton (scientist)|John Dalton]]. (Dalton's diagnosis was confirmed as deuteranopia in 1995, some 150 years after his death, by [[DNA]] analysis of his preserved eyeball.) Deuteranopic unilateral dichromats report that with only their deuteranopic eye open, they see wavelengths below the neutral point as blue and those above it as yellow.<br />
<br />
<!-- Before removing these images, please review the Talk archives. If you do remove them, please explain why on the Talk page. --><br />
[[Image:Colorblind5.png|thumb|left|This image shows the number 56, but someone who is tritanopic may not be able to see it.]]<br />
* '''Tritanopia''' (less than 1% of males and females): Lacking the short-wavelength cones, those affected are unable to distinguish between the colors in the blue-yellow section of the spectrum. This form of color blindness is not sex-linked.<br />
<br />
===Anomalous trichromacy===<br />
<br />
Those with protanomaly, deuteranomaly, or tritanomaly are trichromats, but the color matches they make differ from the normal. They are called anomalous trichromats. In order to match a given spectral yellow light, protanomalous observers need more red light in a red/green mixture than a normal observer, and deuteranomalous observers need more green. From a practical stand point though, many protanomalous and deuteranomalous people breeze through life with very little difficulty doing tasks that require normal color vision. Some may not even be aware that their color perception is in any way different from normal. The only problem they have is passing a color vision test.<br />
<br />
Protanomaly and deuteranomaly can be readily observed using an instrument called an [[anomaloscope]], which mixes spectral red and green lights in variable proportions, for comparison with a fixed spectral yellow. If this is done in front of a large audience of men, as the proportion of red is increased from a low value, first a small proportion of people will declare a match, while most of the audience sees the mixed light as greenish. These are the deuteranomalous observers. Next, as more red is added the majority will say that a match has been achieved. Finally, as yet more red is added, the remaining, protanomalous, observers will declare a match at a point where everyone else is seeing the mixed light as definitely reddish.<br />
* '''Protanomaly''' (1% of males, 0.01% of females):<ref name="KallColor">{{cite web | url = http://webvision.med.utah.edu/KallColor.html#deficiencies | title = Psychophysics of Vision: The Perception of Color | author = Kalloniatis, Michael and Luu, Charles | accessdate = 2007-04-02}}</ref> Having a mutated form of the long-wavelength (red) pigment, whose peak sensitivity is at a shorter wavelength than in the normal retina, protanomalous individuals are less sensitive to red light than normal. This means that they are less able to discriminate colors, and they do not see mixed lights as having the same colors as normal observers. They also suffer from a darkening of the red end of the spectrum. This causes reds to reduce in intensity to the point where they can be mistaken for black. Protanomaly is a fairly rare form of color blindness, making up about 1% of the male population. Both protanomaly and deuteranomaly are carried on the X chromosome.<br />
* '''Deuteranomaly''' (most common - 6% of males, 0.4% of females):<ref name="KallColor"/> Having a mutated form of the medium-wavelength (green) pigment. The medium-wavelength pigment is shifted towards the red end of the spectrum resulting in a reduction in sensitivity to the green area of the spectrum. Unlike protanomaly the intensity of colors is unchanged. This is the most common form of color blindness, making up about 6% of the male population. The deuteranomalous person is considered "green weak". For example, in the evening, dark green cars appear to be black to Deuteranomalous people. Similar to the protanomates, deuteranomates are poor at discriminating small differences in hues in the red, orange, yellow, green region of the spectrum. They make errors in the naming of hues in this region because the hues appear somewhat shifted towards red. One very important difference between deuteranomalous individuals and protanomalous individuals is deuteranomalous individuals do ''not'' have the loss of "brightness" problem.<br />
* '''Tritanomaly''' (equally rare for males and females):<ref name="KallColor"/> Having a mutated form of the short-wavelength (blue) pigment. The short-wavelength pigment is shifted towards the green area of the spectrum. This is the rarest form of anomalous trichromacy color blindness. Unlike the other anomalous trichromasy color deficiencies, the mutation for this color blindness is carried on [[chromosome 7]].<ref name="TMMac">{{cite web | url = http://www.tedmontgomery.com/the_eye/macula.html#X-chrome | title = The Macula | author = Montgomery, Ted M., O.D. | accessdate= 2007-04-02}}</ref> Therefore it is equally prevalent in both male & female populations. The OMIM gene code for this mutation is 304000 “Colorblindness, Partial Tritanomaly”.<ref>{{cite web | title = Disease-causing Mutations and protein structure | url = http://www.biochem.ucl.ac.uk/bsm/humgen/chr__034.html#304000 | publisher = UCL Biochemistry BSM Group | accessdate = 2007-04-02}}</ref><br />
<br />
==Clinical forms of color blindness==<br />
===Total color blindness===<br />
<br />
''[[Achromatopsia]]'' is strictly defined as the inability to see color. Although the term may refer to acquired disorders such as [[color agnosia]] and [[cerebral achromatopsia]], it typically refers to congenital color vision disorders (i.e. more frequently [[rod monochromacy]] and less frequently [[cone monochromacy]]).<br />
<br />
In color agnosia and cerebral achromatopsia, a person cannot perceive colors even though the eyes are capable of distinguishing them. Some sources do not consider these to be true color blindness, because the failure is of perception, not of vision. They are forms of [[visual agnosia]].<br />
<br />
===Red-green color blindness===<br />
<br />
[[Image:XlinkRecessive.jpg|left|X-linked recessive inheritance]]<br />
<br />
Those with protanopia, deuteranopia, protanomaly, and deuteranomaly have difficulty with discriminating red and green hues.<br />
Genetic red-green color blindness affects men much more often than women, because the [[gene]]s for the red and green color receptors are located on the X [[chromosome]], of which men have only one and women have two. Such a trait is called [[sex-linked]]. Females (46, XX) are red-green color blind only if ''both'' their X chromosomes are defective with a similar deficiency, whereas males (46, XY) are color blind if their single X chromosome is defective.<br />
<br />
The gene for red-green color blindness is transmitted from a color blind male to all his daughters who are [[Zygosity|heterozygote]] carriers and are usually unaffected. In turn, a carrier woman has a fifty percent chance of passing on a mutated X chromosome region to each of her male offspring. The sons of an affected male will not inherit the trait from him, since they receive his Y chromosome and not his (defective) X chromosome. Should an affected male have children with a carrier or colorblind woman, their daughters may be colorblind by inheriting an affected X chromosome from each parent.<br />
<br />
Because one X chromosome is [[Barr body|inactivated]] at random in each cell during a woman's development, it is possible for her to have four different cone types, as when a carrier of protanomaly has a child with a deuteranomalic man. Denoting the normal vision alleles by P and D and the anomalous by p and d, the carrier is PD pD and the man is Pd. The daughter is either PD Pd or pD Pd. Suppose she is pD Pd. Each cell in her body expresses either her mother's chromosome pD or her father's Pd. Thus her red-green sensing will involve both the normal and the anomalous pigments for both colors. Such women are [[tetrachromats]], since they require a mixture of four spectral lights to match an arbitrary light.<br />
<br />
===Blue-yellow color blindness===<br />
<br />
Those with tritanopia and tritanomaly have difficulty with discriminating blue and yellow hues.<br />
<br />
Color blindness involving the inactivation of the short-wavelength sensitive cone system (whose absorption spectrum peaks in the bluish-violet) is called '''tritanopia''' or, loosely, blue-yellow color blindness. The tritanopes neutral point occurs near a yellowish 570 nm; green is perceived at shorter wavelengths and red at longer wavelengths. Mutation of the short-wavelength sensitive cones is called '''tritanomaly'''. Tritanopia is equally distributed among males and females. Jeremy H. Nathans (with the [[Howard Hughes Medical Institute]]) proved that the gene coding for the blue receptor lies on chromosome 7, which is shared equally by men and women. Therefore it is not sex-linked. This gene does not have any neighbor whose DNA sequence is similar. Blue color blindness is caused by a simple mutation in this gene. (2006, Howard Hughes Medical Institute).<br />
<br />
==Prevalence==<br />
<br />
Color blindness affects a significant number of people , although exact proportions vary among groups. In Australia, for example, it occurs in about 8 percent of males and only about 0.4 percent of females.<ref>{{cite web | url=http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Colour_blindness | publisher = Better Health Channel | title = Colour blindness | accessdate = 2007-04-02}}</ref> Isolated communities with a restricted gene pool sometimes produce high proportions of color blindness, including the less usual types. Examples include rural [[Finland]], [[Hungary]], and some of the [[Scotland|Scottish]] islands. In the United States, about 7 percent of the male population – or about 10.5 million men – and 0.4 percent of the female population either cannot distinguish red from green, or see red and green differently (Howard Hughes Medical Institute, 2006). It has been found that more than 95 percent of all variations in human color vision involve the red and green receptors in male eyes. It is very rare for males or females to be "blind" to the blue end of the spectrum.<br />
<br />
{| class="wikitable"<br />
|+ Prevalence of color blindness<br />
|-<br />
! !! Men !! Women !! Total !! References<br />
|-<br />
| Overall || — || — || — ||<br />
|-<br />
| Overall (United States) || — || — || 1.30% <!-- (NOTE: This number must be incorrect. It is not possible that 7 to 10% of males have red-green color blindness but only 1.3% of people overall have some kind of color-blindness.) --> || [http://www.wrongdiagnosis.com/c/color_blindness/prevalence.htm] <br />
|-<br />
| '''Red-green''' (Overall) || 7 to 10% || — || — || [http://www.hhmi.org/senses/b130.html][http://www.wrongdiagnosis.com/c/color_blindness/prevalence.htm]<br />
|-<br />
| Red-green (Caucasians) || 8% || — || — || [http://jfly.iam.u-tokyo.ac.jp/color/]<br />
|-<br />
| Red-green (Asians) || 5% || — || — || [http://jfly.iam.u-tokyo.ac.jp/color/]<br />
|-<br />
| Red-green (Africans) || 4% || — || — || [http://jfly.iam.u-tokyo.ac.jp/color/]<br />
|-<br />
| '''Monochromacy''' || — || — || — ||<br />
|-<br />
| Rod monochromacy (no cones) || 0.00001% || 0.00001% || — || [http://www.colorfield.com/ref/types.html]<br />
|-<br />
| '''Dichromacy''' || 2.4% || 0.03% || — || [http://www.colorfield.com/ref/types.html]<br />
|-<br />
| Protanopia (L-cone absent) || 1% to 1.3% || 0.02% || — || [http://www.wrongdiagnosis.com/c/color_blindness/prevalence.htm][http://www.colorfield.com/ref/types.html]<br />
|-<br />
| Deuteranopia (M-cone absent) || 1% to 1.2% || 0.01% || — || [http://www.wrongdiagnosis.com/c/color_blindness/prevalence.htm][http://www.colorfield.com/ref/types.html]<br />
|-<br />
| Tritanopia (S-cone absent) || 0.001% || 0.03% || — || [http://www.colorfield.com/ref/types.html]<br />
|-<br />
| '''Anomalous Trichromacy''' || 6.3% || 0.37% || — || [http://www.colorfield.com/ref/types.html]<br />
|-<br />
| Protanomaly (L-cone defect) || 1.3% || 0.02% || — || [http://www.colorfield.com/ref/types.html]<br />
|-<br />
| Deuteranomaly (M-cone defect) || 5.0% || 0.35% || — || [http://www.colorfield.com/ref/types.html]<br />
|-<br />
| Tritanomaly (S-cone defect) || 0.01% || 0.01% || — || [http://www.colorfield.com/ref/types.html]<br />
|}<br />
<br />
==Diagnosis==<br />
<br />
<!-- Before removing these images, please review the Talk archives. If you do remove them, please explain why on the Talk page. --><br />
[[Image:Ishihara 9.png|left|thumb|180px|Example of an Ishihara color test plate. The numeral "74" should be clearly visible to viewers with normal color vision. Viewers with [[dichromacy]] or anomalous [[trichromacy]] may read it as "21", and viewers with [[achromatopsia]] may see nothing.]]<br />
<br />
The [[Ishihara color test]], which consists of a series of pictures of colored spots, is the test most often used to diagnose red-green color deficiencies.<br />
A figure (usually one or more [[Arabic numerals|Arabic digits]]) is embedded in the picture as a number of spots in a slightly different color, and can be seen with normal color vision, but not with a particular color defect.<br />
The full set of tests has a variety of figure/background color combinations, and enable diagnosis of which particular visual defect is present.<br />
The anomaloscope, described above, is also used in diagnosing anomalous trichromacy.<br />
<br />
However, the Ishihara color test is criticized for containing only numerals and thus not being useful for young children, who have not yet learned to use numerals.<br />
It is often stated that it is important to identify these problems as soon as possible and explain them to the children to prevent possible problems and psychological traumas.<br />
For this reason, alternative color vision tests were developed using only symbols (square, circle, car).<br />
<br />
Most clinical tests are designed to be fast, simple, and effective at identifying broad categories of color blindness. In academic studies of color blindness, on the other hand, there is more interest in developing flexible tests ([http://www.hubmed.org/display.cgi?uids=15192692], for example) to collect thorough datasets, identify [[copunctal point]]s, and measure [[just noticeable difference]]s.<br />
<br />
==Treatment and management==<br />
<br />
There is generally no treatment to cure color deficiencies. However, certain types of tinted filters and contact lenses may help an individual to distinguish different colors better. Optometrists can supply a singular red-tint contact lens to wear in the dominant eye. This may enable the wearer to pass color blindness tests for certain occupations. The effect of wearing such a device is akin to wearing red/blue 3D glasses and can take some getting used to as certain wavelengths can "jump" out and be overly represented. Additionally, [[computer software]] has been developed to assist those with visual color difficulties.<br />
<br />
The Gnome Desktop provides colorblind accessibility using the gnome-mag and the libcolorblind software. Using a gnome applet, the user may switch a color filter on and off choosing from a set of possible color transformations that will displace the colors in order to disambiguate the colors. The software enables, for instance, a color blind person to see the numbers in the ishihara test.<br />
<br />
The [[National Eye Institute]] is doing research into treating/curing color blindness, and it is now required to donate 5% of its resources to this cause under instruction of the [[National Institutes of Health]].<br />
<br />
==Design implications of color blindness==<br />
<br />
[[Color code]]s present particular problems for color blind people as they are often difficult or impossible for color blind people to understand.<br />
<br />
Good [[graphic design]] avoids using color coding or color contrasts alone to express information, as this not only helps color blind people, but also aids understanding by normally sighted people. The use of [[Cascading Style Sheets]] on the [[world wide web]] allows pages to be given an alternative color scheme for color-blind readers. [http://wellstyled.com/tools/colorscheme2/index-en.html This color scheme generator] helps a graphic designer see color schemes as seen by eight types of color blindness. For an example of a map that could present a significant problem to a color blind reader, see [http://www.nytimes.com/imagepages/2007/01/29/science/20070130_BEAR_GRAPHIC.html this graphic] from a recent [[New York Times]] article. The typical red-green color blind reader will find the green sections of the map nearly indistinguishable from the orange, rendering the graphic unreadable.<br />
<br />
Designers should take into account that color-blindness is highly sensitive to differences in material. For example, a red-green colorblind person who is incapable of distinguishing colors on a map printed on paper may have no such difficulty when viewing the map on a computer screen or television. In addition, some color blind people find it easier to distinguish problem colors on artificial materials, such as plastic or in acrylic paints, than on natural materials, such as paper or wood. Thirdly, for some color blind people, color can only be distinguished if there is a sufficient "mass" of color: thin lines might appear black while a thicker line of the same color can be perceived as having color.<br />
<br />
When the need to process visual information as rapidly as possible arises, for example in a train or aircraft crash, the visual system may operate only in shades of grey, with the extra information load in adding color being dropped. This is an important possibility to consider when designing, for example, emergency brake handles or emergency phones.<br />
<br />
Due to this inability to recognize colors such as red and green, some countries (e.g., [[Singapore]] prior to the 1990s or [[Romania]] even to the present day) have refused to grant individuals with color blindness driving licenses. In Romania there is an undergoing effort to remove the legal restrictions that prohibit its colorblind citizens from getting drivers' licenses.<ref>{{cite web | url=http://discromat.wordpress.com/2007/08/15/time-out/ | title = Petition to European Union on Colorblind’s condition in Romania | accessdate = 2007-08-21}}</ref><br />
<br />
==Misconceptions and compensations==<br />
<br />
Color blindness is not the swapping of colors in the observer's eyes. Grass is never red, and stop signs are never green. The color impaired do not learn to call red "green" and vice versa. However, dichromats often confuse red and green items. For example, they may find it difficult to distinguish a [[Braeburn]] from a [[Granny Smith]] and in some cases, the red and yellow of a traffic light without other clues (e.g., shape or location). This is demonstrated in this simulation of the two types of apple as viewed by a trichromat or by a dichromat.<br><br />
<center><br />
<!-- Before removing these images, please review the Talk archives. If you do remove them, please explain why on the Talk page. --><br />
[[Image:Braeburn GrannySmith dichromat sim.jpg]]<br />
</center><br />
<br />
Anomalous Trichromats are often able to readily spot camouflage clothing, netting, and paint that has been designed for individuals with color-normal vision. They tend to learn to see texture and shape. This lets them see through some camouflage patterns.<ref name="dalton"/> In the apple example, above, they will see the clear difference because the surface pattern is different.<br />
<br />
Traffic light colors are confusing to some dichromats: there is insufficient apparent difference between the red and amber and sodium street lamps and the green can be confused with a grubby white lamp. This is a risk factor on a high-speed undulating road where angular cues can't be used. British Rail color lamp signals use more easily identifiable colors: the red is really blood red, the amber is quite yellow and the green is a bluish color.<br />
<br />
Color blindness almost never means complete monochromatism. In almost all cases, color blind people retain blue-yellow discrimination, and most color blind individuals are anomalous trichromats rather than complete dichromats. In practice this means that they often retain a limited discrimination along the red-green axis of color space although their ability to separate colors in this dimension is severely reduced.<br />
<br />
It should also be noted that even though some people are unable to see some or maybe even any of the numbers in (e.g. red-green) color blindness tests, they might still be able to tell the difference between the colors in their everyday lives.<br />
<br />
==See also==<br />
<br />
*[[Cerebral achromatopsia]]<br />
<br />
==References==<br />
<br />
{{reflist|2}}<br />
<br />
==Bibliography==<br />
<br />
*{{cite book<br />
| first = James<br />
| last = Smal<br />
| authorlink = <br />
| coauthors = Hilbert, D.S.<br />
| year = 1997<br />
| title = Readings on Color, Volume 2: The Science of Color <br />
| edition = 2nd ed.<br />
| pages = <br />
| publisher = MIT Press<br />
| location = Cambridge, Massachusetts<br />
| id = ISBN 0-262-52231-4<br />
}}<br />
*{{cite book<br />
| first = Peter K.<br />
| last = Kaiser<br />
| authorlink = <br />
| coauthors = Boynton, R.M.<br />
| year = 1996<br />
| title = Human Color Vision<br />
| edition = 2nd ed.<br />
| pages = <br />
| publisher = Optical Society of America<br />
| location = Washington, DC<br />
| id = ISBN 1-55752-461-0<br />
}}<br />
*{{cite book <br />
| first = Günther <br />
| last = Wyszecki<br />
| authorlink = <br />
| coauthors = Stiles, W.S.<br />
| title = Color Science: Concepts and Methods, Quantitative Data and Formulae <br />
| edition = 2nd edition <br />
| publisher = Wiley-Interscience <br />
| location=places<br />
| year=2000 <br />
| pages = <br />
| id =ISBN 0-471-39918-3<br />
}}<br />
*{{cite book <br />
| first = Donald<br />
| last = McIntyre<br />
| authorlink = <br />
| title = Colour Blindness: Causes and Effects<br />
| publisher = Dalton Publishing<br />
| location= UK<br />
| year=2002<br />
| pages = <br />
| id =ISBN 0-9541886-0-8<br />
}}<br />
*{{cite book<br />
| first = Steven K.<br />
| last = Shevell<br />
| authorlink = <br />
| year = 2003<br />
| title = The Science of Color<br />
| edition = 2nd ed.<br />
| pages = 350<br />
| publisher = Optical Society of America<br />
| location = Oxford, UK<br />
| id = ISBN 0-444-512-519<br />
}}<br />
<br />
==External links==<br />
<br />
Firefox add on for colorblind people https://addons.mozilla.org/en-US/firefox/addon/5001<br />
*[http://www.eyecaresource.com/conditions/color-blindness/ Color Blindness Examples]<br />
*[http://critiquewall.com/2007/12/10/blindness Deuteranope Color Blindness Examples (Most common form of Red/Green)]<br />
*[http://www.archimedes-lab.org/colorblindnesstest.html Color vision deficiency tests and facts]<br />
*[http://jfly.iam.u-tokyo.ac.jp/color/ Colorblind Barrier-Free], contains a proposal for [http://jfly.iam.u-tokyo.ac.jp/color/#pallet dichromacy] safe palette.<br />
*[http://tjshome.com/selftest.php Online Color Blind Selftest]<br />
*[http://www.hikarun.com/e/ WhatColor] - Naming on-screen colors, handy tool for the color blind (Windows)<br />
*[http://colorfilter.wickline.org/ Colorblind Web Page Filter] - View Web sites like a color blind person would see them. <br />
* Color Blindness Online Tests :<br />
** [http://psychology.ucalgary.ca/pace/VA-Lab/colourperceptionweb/congenital.htm Congenital Colour Vision Deficiencies], very good description from the University of Calgary<br />
** [http://colorvisiontesting.com/online%20test.htm Color Vision Testing Made Easy], samples of this alternative test<br />
** [http://home.wanadoo.nl/paulschils/05.03.html The color spectrum as perceived by different people] (includes example test)<br />
** [http://www.egopont.com/colorvision.php Egopont color vision test]<br />
* Attempts to simulate color blind vision (static examples):<br />
** [http://www.colorjack.com/blind.php Blindness Simulation]<br />
** [http://webexhibits.org/causesofcolor/2.html How do things look to colorblind people?], Causes of Color -- WebExhibits<br />
** [http://colorvisiontesting.com/what%20colorblind%20people%20see.htm How the world looks to a color blind person], with example images<br />
**[http://www.iamcal.com/toys/colors/index.php Visual comparisons of various types of color vision impairments]<br />
* Design tools that simulate color blind vision (live previews):<br />
** [http://colorfilter.wickline.org/ ColorBlind Web Page Filter], shows how your web page looks under various forms of color blindness<br />
** [http://www.personal.psu.edu/cab38/ColorBrewer/ColorBrewer_intro.html ColorBrewer], Online tool for selecting good color schemes for maps and other complex graphics<br />
** [http://www.fujitsu.com/global/accessibility/assistance/cd/ Fujitsu ColorDoctor], free Windows tool, simulates look of web pages, still & moving images, and transparent mode<br />
** [http://www.vischeck.com/ VisCheck], demonstrations of color blindness and simulation software<br />
* Attempts to improve images for color blind observers<br />
** [http://www.ryobi-sol.co.jp/visolve/en/ Visolve], free software that transforms colors, enhances saturation and redraws colors with hatches for color blind people. It comes with a standalone program to capture/transform images on screen and a toolbar in Windows taskbar to transform the whole screen.<br />
** [http://www.vischeck.com/daltonize/ Daltonize ], adjusts images to reveal information normally hidden to dichromats.<br />
** [http://www.colorhelper.com/ eyePilot]software to interactively isolate or identify colors or shift the way they are mapped to the screen (Windows & Mac)<br />
* [http://www.stcsig.org/usability/newsletter/9910-color-blindness.html Accommodating Color Blindness in User Interface Design]<br />
<br />
<br />
{{Color vision}}<br />
{{Eye pathology}}<br />
{{SIB}}<br />
<br />
[[Category:Ophthalmology]]<br />
[[Category:Genetic disorders]]<br />
<br />
{{Link FA|pt}}<br />
[[ar:عمى الألوان]]<br />
[[bg:Цветна слепота]]<br />
[[ca:Daltonisme]]<br />
[[cv:Дальтонизм]]<br />
[[da:Farveblindhed]]<br />
[[de:Farbenfehlsichtigkeit]]<br />
[[et:Värvipimedus]]<br />
[[es:Daltonismo]]<br />
[[fr:Daltonisme]]<br />
[[hr:Daltonizam]]<br />
[[io:Kolor-blindeso]]<br />
[[it:Daltonismo]]<br />
[[he:עיוורון צבעים]]<br />
[[mk:далтонизам]]<br />
[[nl:Kleurenblindheid]]<br />
[[ja:色覚異常]]<br />
[[no:Fargeblindhet]]<br />
[[pl:Ślepota barw]]<br />
[[pt:Daltonismo]]<br />
[[ru:Дальтонизм]]<br />
[[sl:Barvna slepota]]<br />
[[sr:Далтонизам]]<br />
[[fi:Värisokeus]]<br />
[[sv:Färgblindhet]]<br />
[[ta:நிறக்குருடு]]<br />
[[tr:Protonopia]]<br />
[[zh:色盲]]<br />
<br />
{{WH}}<br />
{{WikiDoc Sources}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=WikiPatient:_Genetic_Disorders&diff=569636
WikiPatient: Genetic Disorders
2010-08-06T18:50:23Z
<p>Apalmer: </p>
<hr />
<div>----<br />
__NOTOC__<br />
<br />
==Genetic Disorders sorted alphabetically==<br />
[[{{PAGENAME}}#22|22]] | [[{{PAGENAME}}#48|48]] | [[{{PAGENAME}}#49|49]] | [[{{PAGENAME}}#A|A]] | [[{{PAGENAME}}#B|B]] | [[{{PAGENAME}}#C|C]] | [[{{PAGENAME}}#D|D]] | [[{{PAGENAME}}#E|E]] | [[{{PAGENAME}}#F|F]] | [[{{PAGENAME}}#G|G]] | [[{{PAGENAME}}#H|H]] | [[{{PAGENAME}}#I|I]] | [[{{PAGENAME}}#K|K]] | [[{{PAGENAME}}#M|M]] | [[{{PAGENAME}}#P|P]] | [[{{PAGENAME}}#S|S]] |[[{{PAGENAME}}#T|T]] | [[{{PAGENAME}}#W|W]] | [[{{PAGENAME}}#X|X]] <br />
----<br />
<br />
==22==<br />
<br />
*[[22q11.2 deletion syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==48==<br />
<br />
*[[48, XXXX]]<br />
<br />
*[[48, XXYY]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==49==<br />
<br />
*[[49, XXXXX]]<br />
<br />
*[[49 XXXXY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==A==<br />
<br />
*[[Adrenoleukodystrophy (patient information)|Adrenoleukodystrophy]]<br />
<br />
*[[Aneuploidy]]<br />
<br />
*[[Angelman syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==B==<br />
<br />
*[[Burkitt's lymphoma (patient information)|Burkitt's lymphoma]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==C==<br />
<br />
*[[Cat eye syndrome]]<br />
<br />
*[[Color blindness]]<br />
<br />
*[[Costello syndrome (patient information)|Costello syndrome]]<br />
<br />
*[[Cri du chat (patient information)| Cri du chat]]<br />
<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==D==<br />
<br />
*[[Down syndrome (patient information)|Down syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==E==<br />
<br />
*[[Edwards syndrome (patient information)| Edwards syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==F==<br />
<br />
*[[Fragile X syndrome (patient information)|Fragile X syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==G==<br />
<br />
*[[Gonadal dysgenesis]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==H==<br />
<br />
*[[Haemophilia]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==I==<br />
<br />
*[[Ichthyosis vulgaris (patient information)|Ichthyosis vulgaris]]<br />
<br />
*[[IgA nephropathy (patient information)|IgA nephropathy]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==K==<br />
<br />
*[[Klinefelter's syndrome (patient information)|Klinefelter's syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==M==<br />
<br />
*[[Menkes disease (patient information)|Menkes disease]]<br />
<br />
*[[Miller-Dieker syndrome]]<br />
<br />
*[[Mixed gonadal dysgenesis]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==P==<br />
<br />
*[[Patau syndrome (patient information)| Patau syndrome]]<br />
<br />
*[[Philadelphia chromosome]]<br />
<br />
*[[Prader-Willi syndrome (patient information)|Prader-Willi syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==S==<br />
<br />
*[[Smith-Magenis syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==T==<br />
<br />
*[[Triple X syndrome]]<br />
<br />
*[[Trisomy 9]]<br />
<br />
*[[Trisomy 16]]<br />
<br />
*[[Trisomy 22]]<br />
<br />
*[[Turner syndrome (patient information)|Turner syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==W==<br />
<br />
*[[Warkany syndrome 2]]<br />
<br />
*[[Wolf-Hirschhorn syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==X==<br />
<br />
*[[XYY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''</div>
Apalmer
https://www.wikidoc.org/index.php?title=WikiPatient:_Genetic_Disorders&diff=569635
WikiPatient: Genetic Disorders
2010-08-06T18:43:57Z
<p>Apalmer: /* C */</p>
<hr />
<div>----<br />
__NOTOC__<br />
<br />
==Genetic Disorders sorted alphabetically==<br />
[[{{PAGENAME}}#22|22]] | [[{{PAGENAME}}#48|48]] | [[{{PAGENAME}}#49|49]] | [[{{PAGENAME}}#A|A]] | [[{{PAGENAME}}#B|B]] | [[{{PAGENAME}}#C|C]] | [[{{PAGENAME}}#D|D]] | [[{{PAGENAME}}#E|E]] | [[{{PAGENAME}}#F|F]] | [[{{PAGENAME}}#G|G]] | [[{{PAGENAME}}#I|I]] | [[{{PAGENAME}}#K|K]] | [[{{PAGENAME}}#M|M]] | [[{{PAGENAME}}#P|P]] | [[{{PAGENAME}}#S|S]] |[[{{PAGENAME}}#T|T]] | [[{{PAGENAME}}#W|W]] | [[{{PAGENAME}}#X|X]] <br />
----<br />
<br />
==22==<br />
<br />
*[[22q11.2 deletion syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==48==<br />
<br />
*[[48, XXXX]]<br />
<br />
*[[48, XXYY]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==49==<br />
<br />
*[[49, XXXXX]]<br />
<br />
*[[49 XXXXY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==A==<br />
<br />
*[[Adrenoleukodystrophy (patient information)|Adrenoleukodystrophy]]<br />
<br />
*[[Aneuploidy]]<br />
<br />
*[[Angelman syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==B==<br />
<br />
*[[Burkitt's lymphoma (patient information)|Burkitt's lymphoma]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==C==<br />
<br />
*[[Cat eye syndrome]]<br />
<br />
*[[Color blindness]]<br />
<br />
*[[Costello syndrome (patient information)|Costello syndrome]]<br />
<br />
*[[Cri du chat (patient information)| Cri du chat]]<br />
<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==D==<br />
<br />
*[[Down syndrome (patient information)|Down syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==E==<br />
<br />
*[[Edwards syndrome (patient information)| Edwards syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==F==<br />
<br />
*[[Fragile X syndrome (patient information)|Fragile X syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==G==<br />
<br />
*[[Gonadal dysgenesis]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==I==<br />
<br />
*[[Ichthyosis vulgaris (patient information)|Ichthyosis vulgaris]]<br />
<br />
*[[IgA nephropathy (patient information)|IgA nephropathy]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==K==<br />
<br />
*[[Klinefelter's syndrome (patient information)|Klinefelter's syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==M==<br />
<br />
*[[Menkes disease (patient information)|Menkes disease]]<br />
<br />
*[[Miller-Dieker syndrome]]<br />
<br />
*[[Mixed gonadal dysgenesis]] <br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==P==<br />
<br />
*[[Patau syndrome (patient information)| Patau syndrome]]<br />
<br />
*[[Philadelphia chromosome]]<br />
<br />
*[[Prader-Willi syndrome (patient information)|Prader-Willi syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==S==<br />
<br />
*[[Smith-Magenis syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==T==<br />
<br />
*[[Triple X syndrome]]<br />
<br />
*[[Trisomy 9]]<br />
<br />
*[[Trisomy 16]]<br />
<br />
*[[Trisomy 22]]<br />
<br />
*[[Turner syndrome (patient information)|Turner syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==W==<br />
<br />
*[[Warkany syndrome 2]]<br />
<br />
*[[Wolf-Hirschhorn syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''<br />
<br />
==X==<br />
<br />
*[[XYY syndrome]]<br />
<br />
''[[WikiPatient: Genetic Disorders#Genetic Disorders sorted alphabetically|Return to top]]''</div>
Apalmer
https://www.wikidoc.org/index.php?title=De_Grouchy_Syndrome&diff=569634
De Grouchy Syndrome
2010-08-06T18:36:10Z
<p>Apalmer: </p>
<hr />
<div>{{SI}}<br />
<br />
{{CMG}}<br />
<br />
{{EH}}<br />
<br />
==Overview==<br />
'''de Grouchy syndrome''' is a rare [[congenital]] [[medical]] condition caused by an abnormality involving [[chromosome 18]]. It has two forms, classified as type 1 or type 2, depending on the nature of the [[genetic]] lesion.<br />
<br />
de Grouchy syndrome type 1 involves deletion of [[genes]] from the [[short arm]] of the chromosome (18p). <br />
<br />
de Grouchy syndrome type 2 occurs when the long arm of the chromosome is affected (18q). It manifests clinically as [[mental retardation]], short stature, [[hypotonia]], [[hearing impairment]], and foot deformities. Tapered [[digits]] and wide mouth have been described.<ref>http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601808</ref> Approximately 80% of individuals affected by the syndrome are below the fifth centile in height.<ref>Wilson, M. G.; Towner, J. W.; Forsman, I.; Sims, E.: Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am. J. Med. Genet. 3: 155-174, 1979. PubMed ID : 474629</ref><br />
<br />
<br />
== References ==<br />
<!--See http://en.wikipedia.org/wiki/Wikipedia:Footnotes for an explanation of how to generate footnotes using the<ref(erences/)> tags--><br />
<div class="references-small"><references/></div><br />
<br />
<br />
== Further reading ==<br />
de Grouchy, J.; Royer, P.; Salmon, C.; Lamy, M.: Deletion partielle des bras longs du chromosome 18. Path et Biol. 12: 579-582, 1964.<br />
<br />
{{SIB}}<br />
<br />
[[Category:Congenital disorders]]<br />
[[Category:Genetic disorders]]<br />
[[Category:Syndromes]]<br />
[[Category:Genetic Disease]]<br />
<br />
{{WH}}<br />
{{WikiDoc Sources}}</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569633
Prader-Willi syndrome (patient information)
2010-08-06T17:52:16Z
<p>Apalmer: /* Possible complications */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid [[weight gain]]<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*[[Undescended testicles]] in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].<br />
<br />
==What causes Prader-Willi syndrome?== <br />
[[Prader-Willi syndrome]] is caused by a [[gene]] missing on part of [[chromosome 15]]. Normally, your parents each pass down a copy of this [[chromosome]]. Most patients with [[Prader-Willi syndrome]] are missing the [[genetic]] material on part of the father's [[chromosome]]. The remaining patients frequently have two copies of the mother's [[chromosome 15]].<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a [[family history]] of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of [[Prader-Willi syndrome]] may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have [[undescended testicles]].<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid [[obesity]], such as:<br />
<br />
*Abnormal [[glucose]] tolerance<br />
<br />
*Above normal level of [[insulin]] in the blood<br />
<br />
*Excessive [[carbon dioxide]] levels<br />
<br />
*Failure to respond to [[luteinizing hormone]] releasing factor<br />
<br />
*Lack of [[oxygen]] supply<br />
<br />
There may also be signs of right side [[heart failure]] and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your [[health care provider]] if your child has [[symptoms]] of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
[[Obesity]] represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. [[Exercise]] can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
[[Growth hormone]] has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible [[side effects]] with the child's doctor.<br />
<br />
A very small [[penis]] in the male infant may be corrected with [[testosterone]].<br />
<br />
Low levels of [[sex hormones]] may be corrected at [[puberty]] with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*[[Diabetes]]<br />
*[[Right-sided heart failure]]<br />
*[[Orthopedic]] problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569632
Prader-Willi syndrome (patient information)
2010-08-06T17:48:44Z
<p>Apalmer: /* Treatment options */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid [[weight gain]]<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*[[Undescended testicles]] in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].<br />
<br />
==What causes Prader-Willi syndrome?== <br />
[[Prader-Willi syndrome]] is caused by a [[gene]] missing on part of [[chromosome 15]]. Normally, your parents each pass down a copy of this [[chromosome]]. Most patients with [[Prader-Willi syndrome]] are missing the [[genetic]] material on part of the father's [[chromosome]]. The remaining patients frequently have two copies of the mother's [[chromosome 15]].<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a [[family history]] of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of [[Prader-Willi syndrome]] may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have [[undescended testicles]].<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid [[obesity]], such as:<br />
<br />
*Abnormal [[glucose]] tolerance<br />
<br />
*Above normal level of [[insulin]] in the blood<br />
<br />
*Excessive [[carbon dioxide]] levels<br />
<br />
*Failure to respond to [[luteinizing hormone]] releasing factor<br />
<br />
*Lack of [[oxygen]] supply<br />
<br />
There may also be signs of right side [[heart failure]] and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your [[health care provider]] if your child has [[symptoms]] of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
[[Obesity]] represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. [[Exercise]] can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
[[Growth hormone]] has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible [[side effects]] with the child's doctor.<br />
<br />
A very small [[penis]] in the male infant may be corrected with [[testosterone]].<br />
<br />
Low levels of [[sex hormones]] may be corrected at [[puberty]] with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569629
Prader-Willi syndrome (patient information)
2010-08-06T17:34:57Z
<p>Apalmer: /* When to seek urgent medical care */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid [[weight gain]]<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*[[Undescended testicles]] in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].<br />
<br />
==What causes Prader-Willi syndrome?== <br />
[[Prader-Willi syndrome]] is caused by a [[gene]] missing on part of [[chromosome 15]]. Normally, your parents each pass down a copy of this [[chromosome]]. Most patients with [[Prader-Willi syndrome]] are missing the [[genetic]] material on part of the father's [[chromosome]]. The remaining patients frequently have two copies of the mother's [[chromosome 15]].<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a [[family history]] of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of [[Prader-Willi syndrome]] may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have [[undescended testicles]].<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid [[obesity]], such as:<br />
<br />
*Abnormal [[glucose]] tolerance<br />
<br />
*Above normal level of [[insulin]] in the blood<br />
<br />
*Excessive [[carbon dioxide]] levels<br />
<br />
*Failure to respond to [[luteinizing hormone]] releasing factor<br />
<br />
*Lack of [[oxygen]] supply<br />
<br />
There may also be signs of right side [[heart failure]] and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your [[health care provider]] if your child has [[symptoms]] of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
<br />
A very small penis in the male infant may be corrected with testosterone.<br />
<br />
Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569628
Prader-Willi syndrome (patient information)
2010-08-06T17:32:03Z
<p>Apalmer: /* How do I know I have Prader-Willi syndrome? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid [[weight gain]]<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*[[Undescended testicles]] in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].<br />
<br />
==What causes Prader-Willi syndrome?== <br />
[[Prader-Willi syndrome]] is caused by a [[gene]] missing on part of [[chromosome 15]]. Normally, your parents each pass down a copy of this [[chromosome]]. Most patients with [[Prader-Willi syndrome]] are missing the [[genetic]] material on part of the father's [[chromosome]]. The remaining patients frequently have two copies of the mother's [[chromosome 15]].<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a [[family history]] of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of [[Prader-Willi syndrome]] may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have [[undescended testicles]].<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid [[obesity]], such as:<br />
<br />
*Abnormal [[glucose]] tolerance<br />
<br />
*Above normal level of [[insulin]] in the blood<br />
<br />
*Excessive [[carbon dioxide]] levels<br />
<br />
*Failure to respond to [[luteinizing hormone]] releasing factor<br />
<br />
*Lack of [[oxygen]] supply<br />
<br />
There may also be signs of right side [[heart failure]] and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
<br />
A very small penis in the male infant may be corrected with testosterone.<br />
<br />
Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569626
Prader-Willi syndrome (patient information)
2010-08-06T17:28:50Z
<p>Apalmer: /* Who is at risk for Prader-Willi syndrome? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid [[weight gain]]<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*[[Undescended testicles]] in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].<br />
<br />
==What causes Prader-Willi syndrome?== <br />
[[Prader-Willi syndrome]] is caused by a [[gene]] missing on part of [[chromosome 15]]. Normally, your parents each pass down a copy of this [[chromosome]]. Most patients with [[Prader-Willi syndrome]] are missing the [[genetic]] material on part of the father's [[chromosome]]. The remaining patients frequently have two copies of the mother's [[chromosome 15]].<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a [[family history]] of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid obesity, such as:<br />
<br />
*Abnormal glucose tolerance<br />
<br />
*Above normal level of insulin in the blood<br />
<br />
*Excessive carbon dioxide levels<br />
<br />
*Failure to respond to luteinizing hormone releasing factor<br />
<br />
*Lack of oxygen supply<br />
<br />
There may also be signs of right side heart failure and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
<br />
A very small penis in the male infant may be corrected with testosterone.<br />
<br />
Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569625
Prader-Willi syndrome (patient information)
2010-08-06T17:13:35Z
<p>Apalmer: /* What causes Prader-Willi syndrome? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid [[weight gain]]<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*[[Undescended testicles]] in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].<br />
<br />
==What causes Prader-Willi syndrome?== <br />
[[Prader-Willi syndrome]] is caused by a [[gene]] missing on part of [[chromosome 15]]. Normally, your parents each pass down a copy of this [[chromosome]]. Most patients with [[Prader-Willi syndrome]] are missing the [[genetic]] material on part of the father's [[chromosome]]. The remaining patients frequently have two copies of the mother's [[chromosome 15]].<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a family history of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid obesity, such as:<br />
<br />
*Abnormal glucose tolerance<br />
<br />
*Above normal level of insulin in the blood<br />
<br />
*Excessive carbon dioxide levels<br />
<br />
*Failure to respond to luteinizing hormone releasing factor<br />
<br />
*Lack of oxygen supply<br />
<br />
There may also be signs of right side heart failure and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
<br />
A very small penis in the male infant may be corrected with testosterone.<br />
<br />
Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569624
Prader-Willi syndrome (patient information)
2010-08-06T16:52:49Z
<p>Apalmer: /* What are the symptoms of Prader-Willi syndrome? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid [[weight gain]]<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*[[Undescended testicles]] in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid [[obesity]]. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided [[heart failure]], and [[death]].<br />
<br />
==What causes Prader-Willi syndrome?== <br />
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The remaining patients frequently have two copies of the mother's chromosome 15.<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a family history of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid obesity, such as:<br />
<br />
*Abnormal glucose tolerance<br />
<br />
*Above normal level of insulin in the blood<br />
<br />
*Excessive carbon dioxide levels<br />
<br />
*Failure to respond to luteinizing hormone releasing factor<br />
<br />
*Lack of oxygen supply<br />
<br />
There may also be signs of right side heart failure and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
<br />
A very small penis in the male infant may be corrected with testosterone.<br />
<br />
Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569623
Prader-Willi syndrome (patient information)
2010-08-06T16:34:41Z
<p>Apalmer: /* What is Prader-Willi syndrome? */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
[[Prader-Willi syndrome]] is a [[congenital]] (present from birth) disease that involves [[obesity]], decreased muscle tone, decreased mental capacity, and sex glands that produce little or no [[hormones]].<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid weight gain<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*Undescended testicles in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid obesity. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.<br />
<br />
==What causes Prader-Willi syndrome?== <br />
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The remaining patients frequently have two copies of the mother's chromosome 15.<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a family history of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid obesity, such as:<br />
<br />
*Abnormal glucose tolerance<br />
<br />
*Above normal level of insulin in the blood<br />
<br />
*Excessive carbon dioxide levels<br />
<br />
*Failure to respond to luteinizing hormone releasing factor<br />
<br />
*Lack of oxygen supply<br />
<br />
There may also be signs of right side heart failure and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
<br />
A very small penis in the male infant may be corrected with testosterone.<br />
<br />
Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569622
Prader-Willi syndrome (patient information)
2010-08-06T16:24:43Z
<p>Apalmer: </p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones.<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid weight gain<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*Undescended testicles in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid obesity. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.<br />
<br />
==What causes Prader-Willi syndrome?== <br />
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The remaining patients frequently have two copies of the mother's chromosome 15.<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
The genetic changes occur randomly. Patients usually do not have a family history of the condition.<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid obesity, such as:<br />
<br />
*Abnormal glucose tolerance<br />
<br />
*Above normal level of insulin in the blood<br />
<br />
*Excessive carbon dioxide levels<br />
<br />
*Failure to respond to luteinizing hormone releasing factor<br />
<br />
*Lack of oxygen supply<br />
<br />
There may also be signs of right side heart failure and knee and hip problems.<br />
<br />
==When to seek urgent medical care==<br />
Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.<br />
<br />
==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
<br />
Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
<br />
A very small penis in the male infant may be corrected with testosterone.<br />
<br />
Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
<br />
==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
<br />
==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
<br />
==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
<br />
==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
<br />
==Sources==<br />
{{reflist}} <br />
<br />
http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
<br />
{{SIB}}<br />
{{WH}}<br />
{{WS}}<br />
[[Category:Patient Information]]</div>
Apalmer
https://www.wikidoc.org/index.php?title=Prader-Willi_syndrome_(patient_information)&diff=569620
Prader-Willi syndrome (patient information)
2010-08-06T16:14:03Z
<p>Apalmer: /* Sources */</p>
<hr />
<div>'''For the WikiDoc page for this topic, click [[Prader-Willi syndrome|here]]'''<br />
<br />
{{SI}}<br />
<br />
'''Editor-in-Chief:''' Alexandra M. Palmer<br />
<br />
{{EJ}}<br />
<br />
==What is Prader-Willi syndrome?==<br />
Prader-Willi syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones.<br />
<br />
==What are the symptoms of Prader-Willi syndrome?== <br />
Symptoms may include: <br />
*Almond-shaped eyes<br />
*Delayed motor development<br />
*Floppy newborn infant<br />
*Insatiable appetite, food craving<br />
*Irregular areas of skin that look like bands, stripes, or lines<br />
*Narrow bifrontal skull<br />
*Rapid weight gain<br />
*Skeletal (limb) abnormalities<br />
*Slow mental development<br />
*Small for gestational age<br />
*Undescended testicles in the male infant<br />
*Very small hands and feet in comparison to body<br />
<br />
Affected children have an intense craving for food and will do almost anything to get it. This results in uncontrollable weight gain and morbid obesity. Morbid obesity may lead to lung failure with low blood oxygen levels, right-sided heart failure, and death.<br />
<br />
==What causes Prader-Willi syndrome?== <br />
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The remaining patients frequently have two copies of the mother's chromosome 15.<br />
<br />
The genetic changes occur randomly. Patients usually do not have a family history of the condition.<br />
<br />
==Who is at risk for Prader-Willi syndrome?==<br />
<br />
==How do I know I have Prader-Willi syndrome?== <br />
Signs of Prader-Willi syndrome may be seen at birth. Newborns with the condition are often small and very floppy. Male infants may have undescended testicles.<br />
<br />
As the child grows older, laboratory tests may show signs related to morbid obesity, such as:<br />
<br />
*Abnormal glucose tolerance<br />
<br />
*Above normal level of insulin in the blood<br />
<br />
*Excessive carbon dioxide levels<br />
<br />
*Failure to respond to luteinizing hormone releasing factor<br />
<br />
*Lack of oxygen supply<br />
<br />
There may also be signs of right side heart failure and knee and hip problems.<br />
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==When to seek urgent medical care==<br />
Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.<br />
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==Treatment options== <br />
Obesity represents the greatest problem to health. Limiting caloric intake will control the obesity but the family, neighbors, school, and other institutions must cooperate closely as the child will attempt to obtain food wherever possible. Exercise can increase lean body mass in children with Prader-Willi syndrome.<br />
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Growth hormone has also been shown to improve physical strength and agility in patients with Prader-Willi syndrome. There have been some concerns regarding the effect of GH on lung function in children with this condition. Parents should discuss the possible side effects with the child's doctor.<br />
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A very small penis in the male infant may be corrected with testosterone.<br />
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Low levels of sex hormones may be corrected at puberty with hormone replacement.<br />
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==Where to find medical care for Prader-Willi syndrome==<br />
[http://maps.google.com/maps?f=q&amp;hl=en&amp;geocode=&amp;q={{urlencode:{{#if:{{{1|}}}|{{{1}}}|Prader-Willi syndrome}}}}&amp;sll=37.0625,-95.677068&amp;sspn=65.008093,112.148438&amp;ie=UTF8&amp;ll=37.0625,-95.677068&amp;spn=91.690419,149.414063&amp;z=2&amp;source=embed Directions to Hospitals Treating Prader-Willi syndrome]<br />
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==Prevention of Prader-Willi syndrome==<br />
There is no medical prevention for Prader-Willi syndrome.<ref>http://www.pwsausa.org/faq.htm</ref><br />
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==What to expect (Outlook/Prognosis)==<br />
Appropriate education will be needed for the affected person's IQ level. Weight control will allow for a much more comfortable and healthful life.<br />
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==Possible complications== <br />
*Diabetes<br />
*Right-sided heart failure<br />
*Orthopedic problems<br />
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==Sources==<br />
{{reflist}} <br />
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http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm<br />
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[[Category:Patient Information]]</div>
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