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Epidemiology and Clinical Impact of Sickle Cell Disease in India: Genetic Diversity, Regional Inequities, And Contemporary Management Approaches - A Review
Subject area: Biological & Medical Sciences · Area of research: Biochemistry and Social Sciences
Abstract
Sickle cell disease (SCD) is a hereditary hemoglobinopathy caused by a β-globin gene mutation leading to hemoglobin S polymerization, chronic hemolytic anemia, vaso-occlusion, and progressive multi-organ damage. India represents one of the largest global contributors to SCD burden, with pronounced geographic, ethnic, and socioeconomic heterogeneity, particularly affecting tribal and marginalized populations. This review aims to synthesize contemporary evidence on the epidemiology, genetic modifiers, clinical spectrum, and public health response to SCD in India, highlighting key disparities, challenges, and opportunities for disease control. A structured narrative review was conducted using peer-reviewed literature retrieved from PubMed, Science Direct, and allied databases, supplemented by government reports and national program documents. Studies published between 2000 and 2025 reporting epidemiologic, genetic, clinical, or therapeutic data on Indian SCD populations were included. Evidence was thematically synthesized, with findings summarized across geographic distribution, genetic modifiers, and clinical outcomes. India has over 215,000 confirmed SCD cases, with the highest burden concentrated in central, western, and eastern states, particularly among Scheduled Tribes and vulnerable communities. SCD in India is predominantly associated with the Arab–Indian haplotype, often linked to higher fetal hemoglobin levels, yet substantial phenotypic heterogeneity exists due to co-inheritance of α- and β-thalassemia, G6PD deficiency, nutritional factors, and environmental influences. Patients experience a wide spectrum of acute and chronic complications, including vaso-occlusive crises, infections, acute chest syndrome, and progressive organ damage. Expanded screening programs and hydroxyurea therapy have improved detection and outcomes, though gaps in access and continuity of care persist. SCD in India remains a major public health challenge characterized by marked regional and genetic diversity. Strengthening universal screening, integrating genotype-informed care, and reinforcing primary healthcare and national initiatives are essential to reduce morbidity and mortality and achieve sustainable disease control.
Keywords
Sickle Cell Disease, India, Epidemiology, Genetics, Tribal Health, Hydroxyurea Therapy
How to cite this paper
@article{1722238,
author = {Venkataswamy Mallepogu, Nagalakshmamma Vadabingi, Balaji Meriga},
title = {Epidemiology and Clinical Impact of Sickle Cell Disease in India: Genetic Diversity, Regional Inequities, And Contemporary Management Approaches - A Review},
journal = {Iconic Research And Engineering Journals},
year = {2026},
volume = {10},
number = {2},
pages = {1024-1038},
issn = {2456-8880},
url = {https://www.irejournals.com/formatedpaper/1722238.pdf},
abstract = {Sickle cell disease (SCD) is a hereditary hemoglobinopathy caused by a β-globin gene mutation leading to hemoglobin S polymerization, chronic hemolytic anemia, vaso-occlusion, and progressive multi-organ damage. India represents one of the largest global contributors to SCD burden, with pronounced geographic, ethnic, and socioeconomic heterogeneity, particularly affecting tribal and marginalized populations. This review aims to synthesize contemporary evidence on the epidemiology, genetic modifiers, clinical spectrum, and public health response to SCD in India, highlighting key disparities, challenges, and opportunities for disease control. A structured narrative review was conducted using peer-reviewed literature retrieved from PubMed, Science Direct, and allied databases, supplemented by government reports and national program documents. Studies published between 2000 and 2025 reporting epidemiologic, genetic, clinical, or therapeutic data on Indian SCD populations were included. Evidence was thematically synthesized, with findings summarized across geographic distribution, genetic modifiers, and clinical outcomes. India has over 215,000 confirmed SCD cases, with the highest burden concentrated in central, western, and eastern states, particularly among Scheduled Tribes and vulnerable communities. SCD in India is predominantly associated with the Arab–Indian haplotype, often linked to higher fetal hemoglobin levels, yet substantial phenotypic heterogeneity exists due to co-inheritance of α- and β-thalassemia, G6PD deficiency, nutritional factors, and environmental influences. Patients experience a wide spectrum of acute and chronic complications, including vaso-occlusive crises, infections, acute chest syndrome, and progressive organ damage. Expanded screening programs and hydroxyurea therapy have improved detection and outcomes, though gaps in access and continuity of care persist. SCD in India remains a major public health challenge characterized by marked regional and genetic diversity. Strengthening universal screening, integrating genotype-informed care, and reinforcing primary healthcare and national initiatives are essential to reduce morbidity and mortality and achieve sustainable disease control.},
keywords = {Sickle Cell Disease, India, Epidemiology, Genetics, Tribal Health, Hydroxyurea Therapy},
month = {August},
}