Hemoglobinopathy: Difference between revisions
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==Classification== | ==Classification== | ||
Hemoglobinopathy be classified according to genetic and structure of hemoglobin into two main groups:<ref name=" | Hemoglobinopathy be classified according to genetic and structure of hemoglobin into two main groups:<ref name="pmid17950634">{{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> | ||
* Thalassemia syndromes | * Thalassemia syndromes | ||
**α-thalassemia | **α-thalassemia | ||
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** HbC | ** HbC | ||
** Hb Bart’s | ** Hb Bart’s | ||
** Hb J(Johnstown) | |||
** HbM | |||
** HbX | ** HbX | ||
** Hb D | ** Hb D |
Revision as of 15:32, 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:[1]
- 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.
Prevalence
- In 2008, the prevalence of hemoglobinopathy was estimated to be 7% of the worldwide population being carrier.
α-thalassemias
It occure cur mainly in Africa, Arab nations, and, more frequently and South-East Asia
β-thalassemias
It occure cur mainly in Mediterranean countries, South-East Europe, Arab nations and Asia.
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
- ↑ 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.