Beta-thalassemias: expression, molecular mechanisms and mutations in Indians.
The beta-thalassemias are a heterogenous group of inherited disorders of hemoglobin (Hb) synthesis characterized by a reduction (beta+) or absence (beta zero) of synthesis of the beta globin chains of Hb, resulting in an imbalanced chain synthesis. To understand their expression and molecular basis in Indians, it is essential to review briefly the genetic control of normal Hb production and the structure, organization and regulation of different globin genes. The Indian beta-thalassemia mutations and strategies for prevention are described.
Colah
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Institute of Immunohaematology (ICMR), Parel, Mumbai.
Mohanty
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D002648:Child; D002880:Chromosomes, Human, Pair 11; D003906:Developing Countries; D005914:Globins / Q000235:genetics; D006801:Humans; D007194:India; D009154:Mutation / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins