Epidemiological Profile of Haemoglobinopathies in Different Districts of West Bengal: A Retrospective Study

Haemoglobinopathies are autosomal recessive inherited disorders affecting haemoglobin structure or production. Over 1,000 haemoglobin variants have been identified, with carriers often asymptomatic or exhibiting mild anaemia. When both parents are carriers, there is a 25% risk per pregnancy of having a child with a severe form of the disease. Our study aims to (i) describe the epidemiological profile of different haemoglobinopathies, (ii) evaluate the variety of haemoglobinopathies and carriers, and(iii) estimate the prevalence of haemoglobinopathies and carriers.

This retrospective cross-sectional study included 5,000 cases obtained from multiple screening camps organized by Ma Sarada Charitable Dispensary & Pathology Centre. All available high-performance liquid chromatography (HPLC) reports with corresponding patient clinical histories and complete blood count results were reviewed. Patients with a history of blood transfusion were excluded from the study to prevent alteration of hemoglobin profiles. Data was extracted and analysed to determine the prevalence and types of haemoglobinopathies in the study population.

Beta thalassemia carrier is the most common haemoglobinopathy (6.36%) detected in West Bengal, followed by HbE carrier. HbE disease, Hb E beta thalassemia, Hb S carrier, Hb S disease, and HPHF trait are the other haemoglobinopathies, also found in this study. Most of the patients are male (11.27%). Among the districts, Beta thalassemia carrier is mostly found in North 24 Parganas, and Hb E carrier is mostly found in South 24 Parganas. Other haemoglobinopathies are also mostly found in North 24 Parganas.

This study highlights a significant prevalence of beta thalassemia and other hemoglobinopathies in the screened population, underscoring the urgent need for widespread screening programs to identify asymptomatic carriers. Early detection through high-performance liquid chromatography (HPLC) can facilitate timely genetic counseling and intervention, thereby helping to prevent disease transmission. Although HPLC interpretation demands specialized training, it remains a reliable and practical screening tool when performed promptly after blood collection to minimize diagnostic errors.