Hemoglobin Patterns in Sickle Cell Hemoglobinopathies- A Large Prospective Study in North Maharashtra

Abstract

Introduction: Sickle cell haemoglobinopathy is an inherited hemoglobinopathy resulting from a mutation occurring in betaglobin gene, on chromosome 11. The gene is prevalent in some tribes of North Maharashtra. The main aim of the study is to determine haemoglobin patterns in cases with sickle cell hemoglobinoathies in North Maharashtra using HPLC testing system. Material and Methods: This is a prospective study done over a period of 6 years. 10081 patients having positive solubility test or negative solubility test but having clinical suspicion of Sickle cell hemoglobinopathies were studied in detail and all samples were subjected for HPLC testing. Results: Prevalence of sickle cell hemoglobinopathy in this study was 70.36%. Most common pattern of haemoglobin observed was SA (89.72%). A slight female preponderance (54%) was noted. Predominant age group was paediatric (39.96%), followed by12-20yrs (33.97%). Oldest case for HbSS was 55yrs male. Predominant category affected was ST (82.05%). Conclusion: A very high prevalence of Sickle cell hemoglobinopathy was noted in this study. This is because the study was done in areas where Pawara and Bhill community resides who have a high frequency of HbS gene. Solubility test was found to be cost effective and easy screening test (Sensitivity being70.36%). HPLC found to be Rapid and accurate test for diagnosis of hemoglobinopathy and had helped in diagnosis of some rare heterozygous disorders like SA-HBQ India, SA-Hereditary persistence of foetal haemoglobin, HBD-SA. This is one of the largest and first of its kind prospective study which will help in prevention and cost effective management in targeted population.