India bears a huge burden of hemoglobinopathies, and the most prevalent is thalassemia. The different types of thalassemia include minor, major and intermedia, based on the α/β-globin chain inequality. This review aimed to understand the current prevalence of thalassemia in different regions of India and communities affected by it, along with the management of β-thalassemia major (β-TM) and β-thalassemia (β-thal) minor patients. A comprehensive electronic search for relevant articles was conducted using two databases, i.e. PubMed and Science Direct. Articles published in English from India between January 2009 and September 2021 were included. Studies from other countries, genetic and molecular characterization studies, and articles published in other languages were excluded. The prevalence of β-thal trait in Central India ranged between 1.4 and 3.4%, while 0.94% β-TM was reported among the patients with anemia. In South India, the prevalence of β-thal trait was between 8.50 and 37.90% and β-TM was reported to be between 2.30 and 7.47%. Northern and Western Indian states had a higher thalassemic burden. In Eastern India, tribal populations had a higher prevalence of β-thal trait (0.00-30.50%), β-TM (0.36-13.20%) and other hemoglobinopathies [Hb E (HBB: c.79G>A)/β-thal] (0.04-15.45%) than nontribal populations. Additionally, scheduled castes, scheduled tribes and other backward classes of low socioeconomic status and low literacy rates were affected by β-thal. Almost all Indian states reported β-thal; however, it is mostly concentrated in eastern and western parts of the country. Well-integrated strategies and effective implementation are needed at State and National levels to minimize the burden of β-thal.
Keywords: India; hemoglobinopathy; prevalence; β-Thalassemia (β-thal).