Thalassemia: Difference between revisions
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+ | ==Alpha and Beta Thalassemias== |
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+ | !Alpha thalassemia |
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+ | !Beta thalassemia |
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+ | |Epidemiology |
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+ | |Southern China, Malaysia, and Thailand, as well as trait in Africa |
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+ | |Africa and the Mediterranean |
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+ | |Genetics |
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+ | |Affects one (minima/carrier), two (minor/trait), three (HbH), or four (hydrops fetalis) of the alpha globin genes |
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+ | |Affect one (minor) or both (major) of the beta globin genes; can have an intermedia with decreased function |
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+ | |CBC and film |
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+ | |Normal (carrier), or mild (minor) to moderate (HbH) microcytic anemia |
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+ | |Mild (minor) to moderate (intermedia) to severe (major) microcytic anemia; target cells in major |
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+ | |Hemoglobinalysis |
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+ | |Can show HbH (up to 30%) in HbH disease, or 3-8% Hb Barts in minor; silent carrier has normal |
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+ | |HbF elevated (up to 95% in major, 50% in intermedia, 5% minor); elevation of HbA2 >3.5% |
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+ | ==Investigations== |
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+ | *CBC, peripheral blood film, and iron studies |
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+ | **Microcytosis |
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+ | **Elevated RBC count |
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+ | **Normal WBC and platelet counts |
[[Category:Hematology]] |
[[Category:Hematology]] |
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Latest revision as of 10:50, 22 February 2021
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
