Spectrum of Haemoglobinopathies in Sikh population of Bangalore: A pilot study

Abstract

Objectives: To study the burden of different Hemoglobinopathies in the Sikh community of Bangalore. To study their patterns on gel electrophoresis (EPH) and compare the results with hematological parameters and peripheral smear. To confirm the results by cation exchange- High Performance Liquid Chromatography (CE-HPLC) wherever necessary. Materials and Methods: A prospective pilot study was conducted on one hundred and fifty one cases who visited Gurudwara for a regular visit every Sunday. About 2-3 ml. intravenous blood samples were collected after obtaining informed consent from each individual. Background data of each individual were recorded like age, sex, caste, place of origin, consanguinity, etc. Hematological indices were measured using MS4 Cell Counter. Hemoglobin electrophoresis was carried out for the quantification of A2 fraction of hemoglobin by elution method. The use of high performance liquid chromatography is used to separate and quantify abnormal haemoglobin (Hb) fractions that were inseparable on Gel electrophoresis. Results: Most common hemoglobinopathies observed were β?thalassemia trait (5.3%), thalassemia major (0.6%), Hb D trait (1.9%), HbD-β?thalassemia (0.6%), sickle cell trait (0.6%), HbQ disease (0.6%). Conclusions: Proper screening camps and counselling needs to be done on the population at risk about awareness and detection of heterozygous carriers; to prevent the birth of homozygous Beta Thalassemia Major Child. Keywords: Sikh population, Hemoglobinopathies, Electrophoresis, High Power Liquid Chromatography.