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

In India, hemoglobinopathies such as beta-thalassemia, sickle cell disease, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are major public health concerns.

The present meta-analysis aimed to aggregate data on the prevalence and distribution of these nationally significant hemoglobinopathies across various demographic segments of India.

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.

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.

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.

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.