Mutational spectrum of thalassemias in India

a s ite ho ste d b y M ed kn ow P ub lic ati on s ( ww w Thalassemias are common genetic disorders in the Indian subcontinent.[1] Thalassemia major is the severe phenotype which requires lifelong transfusions and bone marrow transplantation is the only curative option available. Knowledge of the ethnic and geographic origin would enable molecular analysis to be tailored, keeping in view the specific mutations in that community or area. The following write-up gives a concise representation of the common thalassemia mutations in Indians.