Hemoglobinopathy: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
Line 8: | Line 8: | ||
==Classification== | ==Classification== | ||
Hemoglobinopathy be classified according to genetic and structure of hemoglobin into two main groups: | Hemoglobinopathy be classified according to genetic and structure of hemoglobin into two main groups: | ||
* Thalassemia syndromes | * Thalassemia syndromes | ||
**α-thalassemia | **α-thalassemia | ||
Line 29: | Line 29: | ||
===Incidence=== | ===Incidence=== | ||
*The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide. | *The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide. | ||
*In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide. | *In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.<ref name="pmid218866663">{{cite journal |vauthors=Kohne E |title=Hemoglobinopathies: clinical manifestations, diagnosis, and treatment |journal=Dtsch Arztebl Int |volume=108 |issue=31-32 |pages=532–40 |date=August 2011 |pmid=21886666 |pmc=3163784 |doi=10.3238/arztebl.2011.0532 |url=}}</ref> | ||
===Prevalence=== | ===Prevalence=== | ||
*In 2008, the prevalence of hemoglobinopathy was estimated to be 7% of the worldwide population being carrier. | *In 2008, the prevalence of hemoglobinopathy was estimated to be 7% of the worldwide population being carrier.<ref name="pmid218866662">{{cite journal |vauthors=Kohne E |title=Hemoglobinopathies: clinical manifestations, diagnosis, and treatment |journal=Dtsch Arztebl Int |volume=108 |issue=31-32 |pages=532–40 |date=August 2011 |pmid=21886666 |pmc=3163784 |doi=10.3238/arztebl.2011.0532 |url=}}</ref> | ||
===Race=== | |||
'''α-thalassemias''' | '''α-thalassemias''' | ||
It occure cur mainly in Africa, Arab nations, and, more frequently and South-East Asia<ref name="pmid21886666">{{cite journal |vauthors=Kohne E |title=Hemoglobinopathies: clinical manifestations, diagnosis, and treatment |journal=Dtsch Arztebl Int |volume=108 |issue=31-32 |pages=532–40 |date=August 2011 |pmid=21886666 |pmc=3163784 |doi=10.3238/arztebl.2011.0532 |url=}}</ref> | |||
It occure cur mainly in Africa, Arab nations, and, more frequently and South-East Asia | |||
'''β-thalassemias''' | '''β-thalassemias''' | ||
It occure cur mainly in Mediterranean countries, South-East Europe, Arab nations and Asia.<ref name="pmid179506342">{{cite journal |vauthors=Petrides PE, Beykirch MK, Kohne E |title=The high oxygen-affinity Hemoglobin Johnstown [(beta 109(G11) Val-->Leu] in a German kindred with an elevated erythrocyte hemoglobin content: potential interaction with HFE mutations |journal=Blood Cells Mol. Dis. |volume=40 |issue=2 |pages=180–2 |date=2008 |pmid=17950634 |doi=10.1016/j.bcmd.2007.08.007 |url=}}</ref> | |||
It occure cur mainly in Mediterranean countries, South-East Europe, Arab nations and Asia. | ===Screening=== | ||
== Common variants == | == Common variants == | ||
* Hb S | * Hb S |
Revision as of 16:13, 31 August 2018
Template:Search infobox Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sogand Goudarzi, MD [2]
Overview
Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Most common hemoglobinopathies include sickle-cell disease.
Classification
Hemoglobinopathy be classified according to genetic and structure of hemoglobin into two main groups:
- Thalassemia syndromes
- α-thalassemia
- β-thalassemia
- Structural hemoglobin variants
- HbS
- HbE
- HbC
- Hb Bart’s
- Hb J(Johnstown)
- HbM
- HbX
- Hb D
Migration patterns
Epidemiology and Demographics
Incidence
- The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
- In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.[1]
Prevalence
- In 2008, the prevalence of hemoglobinopathy was estimated to be 7% of the worldwide population being carrier.[2]
Race
α-thalassemias It occure cur mainly in Africa, Arab nations, and, more frequently and South-East Asia[3]
β-thalassemias It occure cur mainly in Mediterranean countries, South-East Europe, Arab nations and Asia.[4]
Screening
Common variants
- Hb S
- Hb C
- Hb E
- Hb D-Punjab
- Hb O-Arab
- Hb G-Philadelphia
- Hb Hasharon
- Hb Korle-Bu
- Hb Lepore
- Hb M
Hemoglobinopathy and evolution
de:Hämoglobinopathie nl:Hemoglobinopathie
- ↑ Kohne E (August 2011). "Hemoglobinopathies: clinical manifestations, diagnosis, and treatment". Dtsch Arztebl Int. 108 (31–32): 532–40. doi:10.3238/arztebl.2011.0532. PMC 3163784. PMID 21886666.
- ↑ Kohne E (August 2011). "Hemoglobinopathies: clinical manifestations, diagnosis, and treatment". Dtsch Arztebl Int. 108 (31–32): 532–40. doi:10.3238/arztebl.2011.0532. PMC 3163784. PMID 21886666.
- ↑ Kohne E (August 2011). "Hemoglobinopathies: clinical manifestations, diagnosis, and treatment". Dtsch Arztebl Int. 108 (31–32): 532–40. doi:10.3238/arztebl.2011.0532. PMC 3163784. PMID 21886666.
- ↑ Petrides PE, Beykirch MK, Kohne E (2008). "The high oxygen-affinity Hemoglobin Johnstown [(beta 109(G11) Val-->Leu] in a German kindred with an elevated erythrocyte hemoglobin content: potential interaction with HFE mutations". Blood Cells Mol. Dis. 40 (2): 180–2. doi:10.1016/j.bcmd.2007.08.007. PMID 17950634.