Spectrum of hemoglobin variants in the population of northern region of West Bengal: An ethnogenetic proposition

Abstract

Context: The birth of transfusion-dependent states of hemoglobinopathies including thalassemias is preventable by population screening and genetic counseling. Magnitude is not addressed in the Northern Region of West Bengal where many ethnic variants inhabit. Aims and Objectives: The aim of the following study is to find out the burden of different entities of hemoglobinopathies, their correlation with ethnicity and the "at risk" groups. Subjects and Methods: A descriptive study was conducted from the Hematology Unit of North Bengal Medical College over 1 year on the subjects underwent screening for hemoglobinopathies for detection of abnormal hemoglobin (Hb) variants by "cation-exchange high-performance liquid chromatography" principle along with other relevant tests. Statistical Analysis: Data was analyzed by frequency distribution and Chi-square test assuming P value as 95% of the level of significance using the SPSS version 16 (SPSS Inc., Chicago, Illinois, U.S.A). Result: Abnormal Hb variant was 47.5% among 1872. Hb E trait (34.4%) was most common followed by Hb E disease (25.3%) and others. Hb E disorders (92.7%) were observed mostly among Rajbangsi population while E-β-thalassemias (40%) in the Muslims and a heterogeneous pattern noted among tribal and mongoloid. Conclusion: Hb E hemoglobinopathies was high among Rajbangsi and Muslims with identification of some other hemoglobinopathies involving tribal and mongoloid.

Keywords

• Ethnicity
• hemoglobinopathies
• high-performance liquid chromatography
• Northern region of West Bengal
• thalassemias