Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

摘要

Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underliedeficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of diseaseseverity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified intothree groups, based on clinical severity: beta-thalassemia major, beta-thalassemia intermedia and beta-thalassemia minor.In this article we review: 1) the molecular and biochemical basis of beta-thalassemia; 2) clinical features; 3) the range ofcommon molecular variants of beta-thalassemia in a subset of geographic regions within the Indian Subcontinent and theMiddle East; 4) potential molecular diagnostics; and 5) current and future treatments. We suggest that efforts to morecompletely characterize the HBB mutation distribution in high-risk areas, such as the Indian Subcontinent and the MiddleEast, may lead to improved diagnosis with earlier and more effective intervention strategies.