Regional Variations in Thalassemia Prevalence: An Epidemiological Review of India

Thalassemia, a group of inherited blood disorders affecting hemoglobin production, presents a major public health concern in India. This review explores the epidemiology, burden, and challenges associated with alpha (α) and beta (β) thalassemia in the country. India carries a significant burden of thalassemia, particularly β- thalassemia, with variations across regions. Tribal communities and areas with high consanguinity rates show a concerning prevalence. β-thalassemia is more prevalent, with an estimated 3-4% carrier rate nationally. It reaches up to 17% in specific communities. α- thalassemia exhibits wider regional variations, ranging from 1% to 71%, with higher rates in the west, south, and northeast. Thalassemia leads to chronic anemia and requires lifelong medical care, imposing a strain on healthcare systems and families. Limited data, uneven access to screening and care, and inadequate infrastructure pose additional challenges. A multi-pronged approach is necessary. Strengthening carrier screening, prenatal diagnosis, and genetic counselling along with improved healthcare infrastructure and trained professionals are crucial. Research on novel therapies like gene therapy and cost-effective treatment options hold promise for improved disease management. Thalassemia necessitates a comprehensive strategy that includes addressing data gaps, strengthening prevention programs, improving access to care, and promoting research.