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Lec 18 Hemolytic Anemias part 4

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Thalassemia Syndromes

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Terms in this set (27)

Thalassemia Syndromes

-A heterogenous group of autosomal dominant genetic disorders (characterized by abnormal globin gene function resulting in total absence of, or quantitative reduction in alpha or beta globin chain synthesis

Thalassemia globin changes

Reduction in amount of globin chains
-the globin chain is qualitatively normal, but quantitatively abnormal

Thalassemia mRNA

Due to defect in mRNA
-Alpha thalassemia due to gene deletion
-Beta thalassemia due to point mutation

Thalassemia types

Alpha Thalassemia - Alpha chains suppressed
-major and minor

Beta Thalassemia = beta chains suppressed
-major and minor

Alpha Thalassemia

-decreased synthesis of alpha globin
-mild forms difficult to identify
-most frequent cause is deletion of one or more alpha globin genes (gets worse the more genes you delete)
-common in black pop, indian, chinese and middle east