Thalassemia
From IDWiki
Alpha and Beta Thalassemias
| Alpha thalassemia | Beta thalassemia | |
|---|---|---|
| Epidemiology | Southern China, Malaysia, and Thailand, as well as trait in Africa | Africa and the Mediterranean |
| Genetics | Affects one (minima/carrier), two (minor/trait), three (HbH), or four (hydrops fetalis) of the alpha globin genes | Affect one (minor) or both (major) of the beta globin genes; can have an intermedia with decreased function |
| CBC and film | Normal (carrier), or mild (minor) to moderate (HbH) microcytic anemia | Mild (minor) to moderate (intermedia) to severe (major) microcytic anemia; target cells in major |
| Hemoglobinalysis | Can show HbH (up to 30%) in HbH disease, or 3-8% Hb Barts in minor; silent carrier has normal | HbF elevated (up to 95% in major, 50% in intermedia, 5% minor); elevation of HbA2 >3.5% |
Investigations
- CBC, peripheral blood film, and iron studies
- Microcytosis
- Elevated RBC count
- Normal WBC and platelet counts
