Molecular Genetics and Recent Management Strategies of HB E-β Thalassemia

HB E-β地中海贫血的分子遗传学和最新治疗策略

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Abstract

Hb E/β-thalassemia accounts for about 50% of severe thalassemia worldwide. It results from co-inheritance of a β-thalassemia allele from one parent and Hemoglobin E from the other, a thalassemic hemoglobinopathy in which the structural variant is synthesized in reduced quantities. The clinical picture shows a wide range of heterogeneity produced by the interaction of various genetic and environmental factors. Matched family donor (MFD) allogeneic hematopoietic stem cell transplantation (HSCT) is currently considered the only curative standard therapeutic approach for TDT. MUD (matched unrelated donor)/Haploidentical HSCT are emerging effective treatment options in cases of non MFD availability. Hydroxyurea and thalidomide are effective oral treatment options. Novel therapeutic approaches for TDT include drugs targeting ineffective erythropoiesis, HbF inducers and gene therapy.

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