PREVALENCE AND DISTRIBUTION OF HEMOGLOBINOPATHIES IN SOUTHERN ODISHA: A COMPARATIVE PERSPECTIVE WITH NATIONAL AND GLOBAL TRENDS

Abstract

Hemoglobinopathies are genetic blood disorders caused by alterations in the globin genes that affect either the structure or production of hemoglobin. Structural abnormalities result in abnormal hemoglobin variants, whereas reduced or absent globin chain synthesis leads to thalassemia. Deletions in the α-globin genes cause α-thalassemia whereas mutations in the β-globin gene are cause β-thalassemia. Alterations in the amino acid sequence of the α- or β-globin chains may also produce structurally defective hemoglobin, leading to various hemoglobinopathies. The global prevalence of these disorders has increased due to migration from endemic regions, making hemoglobinopathies an important public health concern in India. Early detection and awareness are essential for effective disease management and prevention. Individuals with suspected hemoglobin disorders are initially evaluated through clinical history and routine hematological investigations, followed by confirmatory tests such as hemoglobin electrophoresis, high-performance liquid chromatography, and mass spectrometry. Recent advances in molecular diagnostics, particularly massively parallel sequencing (next-generation sequencing), have improved the accuracy of detecting thalassemia and other hemoglobinopathies. In addition, genetic screening and prenatal diagnosis play a crucial role in reducing the birth of affected children and preventing pregnancy-related complications. In the present study, data of 1368 hemoglobinopathy patients from different districts of Southern Odisha like Ganjam, Gajapati, Rayagada and Kandhamal were collected and analyzed. Among them, 917 cases were identified as sickle cell positive and 451 as thalassemia positive. This study aims to evaluate the current burden of hemoglobinopathies in Southern Odisha and compare the findings with national and global trends.