Spectrum of Haemoglobinopathies Detected on Antenatal Screening and Diagnostic Work-up in an Urban Healthcare Set-up: A Retrospective Study

Abstract

Introduction: Haemoglobinopathies are inherited disorders of haemoglobin (Hb) and consist of Thalassemias and many other structurally variant haemoglobins. Out of these, beta-thalassemia major and clinically significant sickle cell disorders are of great public health importance in India. Lack of awareness regarding their prevalence and knowledge about diagnostic methods, has resulted in failure of community control of birth of these otherwise totally preventable genetic disorders in India. Aim: To study the spectrum of haemoglobinopathies in the study population and to assess the effectiveness of the antenatal screening program, in identifying the couples at-risk and providing prenatal intervention. Materials and Methods: This retrospective cohort study was performed at a community healthcare set-up in Mumbai. from August 2021 to October 2021 on medical records of 10,025 patients including women who were part of antenatal screening, patients investigated for anemia and who underwent haemoglobin electrophoresis over 12 years (October 2007 to October 2019). Alkaline Electrophoresis test was performed using the InterlabGenios analyser on cellulose acetate and the findings were interpreted along with haemogram parameters. Finding of various conditions were presented in terms of prevalence rates and mean values of relevant blood count parameters were presented as mean±SD. Results: An abnormal haemoglobin pattern was seen in 544 (5.42%) of the 10,025 cases with age group ranged from 1 year to 84 years. Most common haemoglobinopathies detected were beta (β) thalassemia trait 378 (3.77%) followed by sickle cell trait (0.9%), Hb D trait (0.26%), HbE trait (0.24%) and others. Carriers of haemoglobinopathies were detected in 186(3.74%) of 4968 women, on antenatal screening. A total of 18 couples-at-risk were identified. One child with thalassemia major and another with sickle cell disease were born in this population over 12 years. Conclusion: The b-Thalassemia trait and HbS trait are the commonest haemoglobinopathies detected. Antenatal screening programme and timely intervention is an effective strategy to control clinically significant major hemoglobinopathies.