Thalassemia is affects thousands of Indians and it is estimated that nearly 10,000 new patients are born every year. Multiple mutations in the globin genes, lead to globin synthesis imbalance, resulting in Thalassemia. The average prevalence of the homozygous state across the country ranges from 3-4% with certain communities recording as high as 80% homozygosity/trans-heterozygosity. The genetic diversity of the Indian population means that around 28 of the 200 known mutations responsible for Thalassemia is present in India.

Patients of Thalassemia Major require regular blood transfusions. This helps the anemia that patients suffer but it also leads to iron overload. Iron overload affects multiple tissues such as liver, heart, spleen, pancreas, thyroid etc. bringing more suffering to the patients. However, there are also patients who are refractory to Iron overload in spite of regular transfusions. This suggests that there are other genes in the patient genome which determine whether they develop iron overload or not. A knowledge of these other genes can help predict the response of the patient to transfusion.

This project aims to indentify and understand the role of genetic modifiers that affect the iron status in the Thalassemia patients.