β-Globin Mutations in Egyptian Patients With β-Thalassemia.

Abstract excerpt

β-thalassemia is a common hereditary disorder, particularly in Middle Eastern countries. More than 200 mutations in the β globin gene have been reported; most are point mutations in functionally important regions (HBB; OMIM #141900)). The spectrum of mutations varies significantly between different geographical regions; only a few common mutations of β-globin cause β-thalassemia in each population. The aim of...

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