Hemoglobinopathy
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.
Race
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.