India is ethnically a diverse country with marked regional variation. Due to migration, there is constant mixing of people from different regions. These migrations not only helped in creating variations leading to positive mutations but also caused many genetic abnormalities leading to inheritance of genetic disorders. The most common genetic disorder that occurs during the neonatal period is hemolytic anemia. Being multifactorial in nature, this disease is predominantly intrinsic to erythrocytic dysfunction. These dysfunctions are related to structural and functional abnormality of erythrocytes, thus leading to hemoglobinopathies. From clinical as well as epidemiological point of view, prevalency within hemoglobinopathic mutations are sickle cell anemia and thalassemia. These mutations affect population with origin in Africa, the Mediterranean region, Southeast Asia, the Middle East and the Far East. Around 1-2% of the global population is heterozygous for Hb S and 3% are heterozygous for β-thalassemia. Sickle cell disease (SCD) and thalassemia are the most common forms of hereditary hemolytic anemia. Apart from monogenic inheritance, co-inheritance is also seen leading to compoung heterozygosity within the population. Persons with Hb S/β- thalassemia major are almost never symptomatic at birth because of the presence of Hb F, but symptoms begin to develop by six months of age. They often die of cardiac complications of iron overload by 30 years of age. Beginning transfusion and chelation therapy are difficult challenges for parents to face early in their child's life. Therefore, this pilot study was attempted to observe the prevalence of compound heterozygosity within a particular population. If a bone marrow transplant is a possibility, the blood for transfusion should be negative for cytomegalovirus. Hematopoietic stem cell transplantation has cured >1,000 patients who have S-β- thalassemia major. We think that antenatal screening or screening of higher secondary school children to detect hemoglobinopathies, counselling of the individuals with hemoglobinopathies is expected to help in drastically reducing the incidence of the disease. We need to reduce the burden of genetic disease by implementing programs such as population screening, genetic counselling and prenatal diagnosis. The available data for Hb S/β- thal are mostly based on the patients attending hospitals for treatments and their immediate family members. This data will help in planning population screening programs and thus, consequently result in the reduction of genetic diseases.

Keywords: Hb S/β-Thal; Hemoglobinopathies; Transfusion.