Prevalence and Distribution of Haemoglobinopathies in Uttar Pradesh, India: A Narrative Review

Abstract

Background: A major genetic and economic health burden in India is constituted by haemoglobinopathies, including β-thalassaemia and sickle-cell disorders. National estimates comment on the prevalence of haemoglobinopathies in the Northern state of Uttar Pradesh(UP), a consolidated synthesis of its prevalence across districts and different populations is still missing.

Objectives: To summarise evidence on the prevalence of haemoglobinopathies in UP, compare the regional and population differences and comment on recommendations for the future.

Methods: A structured narrative review was conducted using PubMed and Google Scholar articles up to March 2025. The included studies commented on the prevalence of β-thalassaemia, sickle-cell disease, HbE, or other variants in UP. From the included papers, data on population, sample size, diagnostic methods, and prevalence were extracted and critically appraised.

Results: Ten studies (2004–2025) were included, covering the eastern, central, western, and northern parts of the UP. Diagnostic approaches evolved from electrophoresis (2004–2015) to high-performance liquid chromatography (HPLC) and molecular analysis (post-2017).
Community and hospital-based prevalence ranged from 3–13 % for β-thalassaemia trait, 0.8–10 % for sickle-cell trait, and 1–4 % for HbE trait. The highest prevalence was reported among the Tharu tribal population in Lakhimpur Kheri (β-thal 12.98 %, HbS 7.5 %). Hospital-based surveys in Lucknow and Varanasi revealed moderate frequencies (~5%). Molecular data revealed IVS1-5 as the predominant β-thalassaemia mutation.

Conclusion: Haemoglobinopathies in Uttar Pradesh show marked regional and ethnic heterogeneity, with eastern and Terai districts emerging as genetic hotspots. Standardised HPLC-based screening, antenatal testing, and inclusion of molecular assays are essential for accurate burden estimation and prevention strategies.