The α‐Thalassemias

The a-thalassemias are common genetic disorders that result from reduced synthesis of the a-globin chains of hemoglobin (Hb) (reviewed in Ref. 1). Most affected individuals originate from tropical and subtropical regions, where the high frequency is thought to have resulted from a selective advantage afforded to carriers of a-thalassemia in the presence of endemic falcipamm malaria.’ The clinically severe forms of a-thalassemia (Hb H disease and the Hb Bart’s hydrops fetalis syndrome) are particularly common in Southeast Asia, where it has been estimated that up to 17,000 severely affected individuals are born each year.3 Analysis of the determinants of a-thalassemia is directed towards providing a rational basis for genetic counseling and prenatal diagnosis OF these disorders. In addition, much of the progress in our understanding of the mechanisms underlying globin gene expression has been derived from the analysis of these naturally occurring mutations.

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