Hemoglobinopathies: Insights From a Five-Year Study at Vivekananda Kendra NRL Hospital

Background: Hemoglobinopathies are major inherited disorders of hemoglobin structure, function, or production, with significant prevalence in the Indian subcontinent. Though they continue to pose a major health concern, early detection and treatment goes a long way in managing these cases. To determine the spectrum and prevalence of hemoglobinopathies in patients attending Vivekan Objective: anda Kendra NRL Hospital, Numaligarh, Golaghat, Assam, over a five-year period. A retrospective observational study was conduc Methods: ted on 2083 cases between January 2019 and July 2024. Hemoglobin variants were identified using high-performance liquid chromatography (HPLC) with Bio-Rad D10 and Variant analyzers. Demographic, clinical, and hematological datas were analyzed. Of the total cases Results: , 1112 (53.4%) demonstrated abnormal hemoglobin patterns. A female predominance (71.5%) was observed, with the highest incidence between 19–50 years. The most prevalent abnormality was HbE trait (47.8%), followed by HbE/β-thalassemia (24.4%), β-thalassemia trait (10.9%), and HbE disease (9%). Sickle cell trait was present in 2.3%, sickle cell with β-thalassemia in 1.4%, and sickle cell disease in 0.16%. One case of hereditary persistence of fetal hemoglobin (HPFH) was documented. Hemoglobinopathies are highly prevalent in this region, particula Conclusion: rly HbE trait and HbE/βthalassemia, with significant female predominance. HPLC is a reliable diagnostic tool for large-scale screening. Early detection and awareness programs are essential to reduce the disease burden.