Systematic Review and Meta-analysis on the Prevalence of Common Hemoglobinopathies in India

CONTEXT: In India, hemoglobinopathies such as beta-thalassemia, sickle cell disease, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are major public health concerns. AIMS: The present meta-analysis aimed to aggregate data on the prevalence and distribution of these nationally significant hemoglobinopathies across various demographic segments of India. MATERIALS AND METHODS: The systematic review adhered to PRISMA 2020 guidelines. Four databases - Web of Science, PubMed, ProQuest, and Embase - were searched till 12.05.2024. Risk of bias assessment studies were undertaken using the JBI Critical Appraisal Checklist. STATISTICAL ANALYSIS USED: Pooled estimate of prevalence of each hemoglobinopathies and their traits was calculated with 95% confidence interval (CI). I2 statistics and the prediction interval were calculated to depict the heterogeneity. All statistical analyses were done in R studio. RESULTS: Database search yielded 1418 articles, among which 99 studies were finally included. Pooled prevalence of sickle cell anemia from 656,005 participants was 2% (95% CI: 1%-3%, I2 = 99.6%). Pooled prevalence of sickle cell trait was 5% (95% CI: 2%-8%, I2 = 99.9%). Pooled prevalence of beta thalassemia was 6% (95% CI: 2%-12%, I2 = 99.9%). Pooled prevalence of beta thalassemia trait was 7% (95% CI: 4%-9%, I2 = 99.6%). Pooled prevalence of G6PD deficiency was 5% (95% CI: 3%-8%, I2 = 98.8%). Subgroup analysis revealed varying prevalence of hemoglobinopathies across the regions and states. CONCLUSIONS: The study findings highlight the burden and subsequent need for region-specific (decentralized) strategies for managing hemoglobinopathies. Addressing the burden through early diagnosis, genetic counseling, and public health interventions is crucial in reducing morbidity and improving health outcomes.