Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants

AbstractG6PD deficiency is a monogenic, X-linked genetic defect with a worldwide prevalence of around 400 million people and an overall prevalence of 8.5% in India. Hemolytic anemia is encountered in only a small proportion of patients with G6PD variants and is usually triggered by some exogenous agent. Although G6PD deficiency was reported in India more than 50  years ago, there are very few studies on molecular characterization and phenotypic correlation in G6PD deficient patients. We aimed to study the epidemiology and correlate the phenotypic expression with molecular genotypes in symptomatic G6PD deficient patients. All symptomatic hemolytic anaemia p atients with a possible etiology of G6PD deficiency based on the clinical, hematological and biochemical parameters and reduced G6PD enzyme levels were included in this study. Molecular analysis of the G6PD gene was done by direct Sanger sequencing. From a total of 38 patients with hemolytic anemia suspected for G6PD deficiency, 24 patients had reduced G6PD enzyme levels and were included for the molecular analysis and mutations in theG6PD gene were identified in 21 of them (83.3%). The different mutations identified in our study include 6 patients with c.131C  >  G (G6PD Orissa), 3 patients with c.563C >  T (G6PD Mediterranean), two patients with c.825G >  T (G6PD Bangkok), one patient each with c.208T >  C (G6PD Namouru), c.487G >  A (G6PD Mahidol), c.949G >  A (G6PD Kerala-Kalya...
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research