Genetics of Thalassemia

Abstract

β-Thalassemia is a common genetic disorder caused by mutations in β-globin gene that results in reduced β-globin production. There are more than 200 different mutations that have been reported till date affecting the diverse levels of β-globin gene expression and causing β-thalassemia. Nucleotide substitutions and frameshift insertion-/deletion-type mutations interfere with the molecular mechanism like transcription of the β-globin gene, splicing process and translation of mRNA of β-globin gene, thus resulting in either absence or reduction of synthesis of β-globin chains. Molecular analysis is a must for all thalassemia patients. Definitive diagnosis and counseling of these patients will help in better management of disease.