Atransferrinemia: Difference between revisions
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==Overview== | |||
'''Atransferrinemia''' is a [[genetic disorder]] in which there is absence of [[transferrin]], a [[Blood plasma|plasma]] [[protein]] that transports [[iron]] through the [[blood]]. | '''Atransferrinemia''' is a [[genetic disorder]] in which there is absence of [[transferrin]], a [[Blood plasma|plasma]] [[protein]] that transports [[iron]] through the [[blood]]. | ||
Atransferrinemia is characterized by [[anemia]] and [[hemosiderosis]] in the [[heart]] and [[liver]]. The iron damage to the heart can lead to [[heart failure]]. The anemia is typically [[microcytic]] and hypochromic (the [[red blood cell]]s are abnormally small and pale). Atransferrinemia is extremely rare, with eight cases documented worldwide.[http://www.apotransferrin.com/] | Atransferrinemia is characterized by [[anemia]] and [[hemosiderosis]] in the [[heart]] and [[liver]]. The iron damage to the heart can lead to [[heart failure]]. The anemia is typically [[microcytic]] and hypochromic (the [[red blood cell]]s are abnormally small and pale). Atransferrinemia is extremely rare, with eight cases documented worldwide.[http://www.apotransferrin.com/] | ||
== | ==Pathophysiology== | ||
===Genetics=== | |||
==Genetics== | |||
A [[case study]] was done in 1961 on a 7-year-old girl who passed away from heart failure with atransferrinemia. The half-normal levels of transferrin in her parents' bloodstream supported the notion that this disorder is transferred in an [[Autosome|autosomal]] [[Recessive gene|recessive]] pattern.<ref>{{cite journal |author=Heilmeyer L, Keller W, Vivell O et al |title=Congenital atransferrinemia in a 7-year-old girl. |language=German |journal=Dtsch. Med. Wochenschr. |volume=86 |issue= |pages=1745-51 |year=1961 |pmid=13906010 |doi=}}</ref> Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach for children such as Violet (''see picture above''), however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States<ref>{{cite journal |author=Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF |title=Molecular characterization of a case of atransferrinemia |journal=Blood |volume=96 |issue=13 |pages=4071-4 |year=2000 |pmid=11110675 |doi=}} | A [[case study]] was done in 1961 on a 7-year-old girl who passed away from heart failure with atransferrinemia. The half-normal levels of transferrin in her parents' bloodstream supported the notion that this disorder is transferred in an [[Autosome|autosomal]] [[Recessive gene|recessive]] pattern.<ref>{{cite journal |author=Heilmeyer L, Keller W, Vivell O et al |title=Congenital atransferrinemia in a 7-year-old girl. |language=German |journal=Dtsch. Med. Wochenschr. |volume=86 |issue= |pages=1745-51 |year=1961 |pmid=13906010 |doi=}}</ref> Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach for children such as Violet (''see picture above''), however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States<ref>{{cite journal |author=Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF |title=Molecular characterization of a case of atransferrinemia |journal=Blood |volume=96 |issue=13 |pages=4071-4 |year=2000 |pmid=11110675 |doi=}} | ||
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[[Image:Autorecessive.svg|thumb|left|200px|This condition is inherited in an [[autosomal recessive]] pattern, meaning two copies of the gene in each cell are altered.]] | [[Image:Autorecessive.svg|thumb|left|200px|This condition is inherited in an [[autosomal recessive]] pattern, meaning two copies of the gene in each cell are altered.]] | ||
<br clear="left"/> | <br clear="left"/> | ||
==Diagnosis== | |||
===Symptoms=== | |||
Severe microcytic hypochromic anemia, growth retardation and recurrent [[infection]]s are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, [[pancreas]], [[thyroid]], [[kidney]] and [[Joint|bone joints]], leading to mild to severe symptoms of [[Liver failure|liver]] and heart failure, [[arthropathy]] and [[hypothyroidism]]. Death may occur due to heart failure or [[pneumonia]]. | |||
==Treatment== | ==Treatment== | ||
===Medical Therapy=== | |||
Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the [[anemia]] and growth defects. | Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the [[anemia]] and growth defects. | ||
==References== | ==References== | ||
{{Reflist|2}} | |||
==External links== | ==External links== | ||
* [http://www.orpha.net/static/GB/atransferrinemia.html Elaborate Explanation of Symptoms and Genetic Inheritance] | * [http://www.orpha.net/static/GB/atransferrinemia.html Elaborate Explanation of Symptoms and Genetic Inheritance] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
{{WikiDoc Sources}} | {{WikiDoc Sources}} | ||
[[Category:Disease]] | |||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 16:14, 21 September 2012
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| 2-year old Violet, a young European girl with atransferrinemia. | |
| ICD-9 | 273.8 |
| OMIM | 209300 |
| DiseasesDB | 29538 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Atransferrinemia is a genetic disorder in which there is absence of transferrin, a plasma protein that transports iron through the blood.
Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia is extremely rare, with eight cases documented worldwide.[2]
Pathophysiology
Genetics
A case study was done in 1961 on a 7-year-old girl who passed away from heart failure with atransferrinemia. The half-normal levels of transferrin in her parents' bloodstream supported the notion that this disorder is transferred in an autosomal recessive pattern.[1] Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach for children such as Violet (see picture above), however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States[2] and identified mutations in the TF gene as a probable cause of the disorder.
Diagnosis
Symptoms
Severe microcytic hypochromic anemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism. Death may occur due to heart failure or pneumonia.
Treatment
Medical Therapy
Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the anemia and growth defects.
References
- ↑ Heilmeyer L, Keller W, Vivell O; et al. (1961). "Congenital atransferrinemia in a 7-year-old girl". Dtsch. Med. Wochenschr. (in German). 86: 1745–51. PMID 13906010.
- ↑ Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF (2000). "Molecular characterization of a case of atransferrinemia". Blood. 96 (13): 4071–4. PMID 11110675.