Haemoglobinopathies in India: Screening, Genomics and Curative Therapies
Division of Molecular Genetics and Department of Haematology, Institute of Biomedical Sciences, Kolkata, West Bengal, India
Corresponding Author: Das M, Doctus Journal of Biomedical Sciences.
Abstract
India carries one of the largest global burdens of beta-thalassaemia and sickle cell disease, concentrated in specific communities and geographies. This review examines the three pillars of national response: premarital and antenatal screening programmes and why uptake varies so widely between states; the genomic landscape of Indian mutations, which differs materially from European reference panels and affects the design of diagnostic assays; and the emerging curative options, from matched sibling transplant to gene addition and fetal haemoglobin reactivation. We argue that the principal constraint is no longer scientific but logistical, and that registry linkage between screening programmes and treatment centres would deliver more immediate benefit than any single therapeutic advance.
Keywords
Thalassaemia; Sickle Cell Disease; Genomic Screening; Gene Therapy; Haemoglobinopathy; Public Health Genomics
How to Cite
Das M, Bhattacharya T and Ghosh K. “Haemoglobinopathies in India: Screening, Genomics and Curative Therapies”. Doctus Journal of Biomedical Sciences 2.9 (2026): 05-24.
Copyright and Licence
© 2026 Das M. This is an open access article distributed under the Creative Commons Attribution Licence, which permits unrestricted use, distribution and reproduction in any medium, provided the original work is properly cited.