Hemoglobinopathies Among Tharu Population In Western Region Of Nepal

Abstract

Hemoglobinopathies are hereditary conditions. Sickle cell anemia and thalassemia newlineare the main hemoglobinopathies caused by mutations in the globin gene and a newlinereduction in the synthesis of normal globin chains. According to the WHO, it s a newlineglobal health burden, and the indigenous Tharu community is mainly affected in newlineNepal. The objective of this study was to find out the status of hemoglobinopathies newlineand common beta globin gene mutations in Tharu communities of western Nepal. newline1400 blood samples were collected from Banke, Bardiya, and Kailali districts of newlinewestern Nepal. Only Tharu ethnic people of age gt2 years were included in this newlinestudy. All samples were first analyzed for complete blood cell count (CBC) and newlineSickle solubility test, then High Performance Liquid Chromatography (HPLC) was newlineperformed. Randomly selected 20 hemoglobinopathies positive samples were further newlineanalyzed for common beta globin gene mutations. Real-time PCR technique was newlineused to detect seven mutations: IVS1 (GgtA), IVS2(GgtA), IVS110 (GgtA), IVS5 newline(GgtC), IVS6 (TgtC), Codon 8/9 (+G), and Codon 41/42 (-TCCT). Overall, 14.43% newlineof prevalence was observed, among which the sickle cell trait was the most common newlinewith 58.9%, followed by the and#946;-thalassemia trait 27.72%, sickle cell homozygous newline4.45%, HbE heterozygous 3.96%, compound heterozygous for HbS and beta newlinethalassemia 1.98%, HPFH trait 1.98%, and delta beta thalassemia trait 0.99%. newlineFemales were more affected than males, with a ratio of 0.53:1. Age groups 13 30 newlinewere most affected, followed by the 2 12 age group, which comprises 88.11% of the newlinetotal hemoglobinopathies cases. Bardiya district has shown the highest prevalence, newlinefollowed by Kailali and Banke. Fatigue was the main clinical symptom, followed newlineby joint pain, pallor, and shortness of breath. IVS6 (TgtC) (19%) and IVS110 (GgtA) newline(19%) are the most common mutations in this study, followed by IVS5 (GgtC) newline(18%), IVS2 (GgtA) (17%), IVS1 (GgtA) (14%), and Codon8/9 (+G) (10%) and newlineCodon41/42 (-TCCT) (3%) mutations.