An Insight into the Symptomatology of ß-Thalassaemia Major: Molecular Genetic Basis of the Disease – III

Abstract

Thalassaemia syndrome is a group of inherited disorders resulting in low oxygen carrying capacity; severe anaemia due to haemolysis, ineffective erythropoiesis and bone marrow expansion in the bones, liver and spleen being the causes. Globally, there are approx. 394 ß Thalassaemia mutations (excluding alpha and other variants genetic mutations) responsible for this disorder [1]. Each ethnic group has 5-6 common mutations causing ß-thalassaemia; these mutations may not be shared in other ethnic groups [2]. Some mutations result in ß+phenotype (producing some functional Hb-A while others have more severe ß⁰phenotype (no functional Hb-A is formed). Rare cases are caused by deletion in ß globin gene (deletion of 619 base pairs in exon-1 of ß-globin gene); found in Gujrati, Sindhi, and Memon ethnicities.