Genetics of Thalassemia in Indian Population

Thalassemia is one of the main disorders in India for ailing child health. As, genetic disorder, it can't be cured and needs repeated blood transfusion. It is estimated that about 10% of world thalassemic people's live in Indian subcontinent. Either reduced or absence of globin chain (either a or á chain of hemoglobin) are cause for this disease due to mutation in the respective genes. Mutation in the a globin gene is common and responsible for most of the thalassemia cases, where as mutation in the á globin gene is rare and can't be easily diagnosed clinically as thalassemia. For better understanding of the molecular basis of thalassemia, it is essential to know the different mutations involved in different types of thalassemia. In this review we have presented different types of mutation, present in á and a globin genes, commonly recorded in different states and communities of India.