Estimation Of G6PD Status And Analysis of Its Common Genetic Variants In The School Going Population of Kolkata

Abstract

Background: Glucose 6 phosphate dehydrogenase (G6PD) plays a crucial role in the Hexose Monophosphate (HMP) shunt by generating NADPH, essential for protecting red blood cells from oxidative stress. Deficiency of this enzyme predisposes individuals to hemolysis, particularly following infections or exposure to oxidant drugs such as primaquine. Although several common G6PD mutations (131G to C, 563C toT, 949G to A) have been reported across India, molecular data from Eastern India especially Kolkata remain limited. This study aimed to determine the prevalence of G6PD deficiency and its common genetic variants among school-going children in Kolkata.
Methods: A cross-sectional study was conducted among 260 school children aged 5 to 14 years in Kolkata. G6PD enzyme activity was measured using standard quantitative assays. Genotyping for three major Indian G6PD single nucleotide polymorphisms (131G to C, 563C to T, 949G to A) was performed using PCR RFLP. The prevalence of enzyme deficiency and the distribution of Single Nucleotide Polymorphisms were analysed to assess potential associations.
Results: The prevalence of G6PD deficiency in the study population was low (2.3%). None of the three common G6PD variants: 131G to C (Odisha type), 563C to T (Mediterranean type), or 949G to A (Kerala–Kalyan type) showed significant association with measured enzyme deficiency. Despite Kolkata being a region with ongoing malaria transmission, the expected correlation between high malaria burden and higher prevalence of G6PD-deficient alleles was not observed.
Conclusion: This study demonstrates that common Indian G6PD polymorphisms are not major contributors to G6PD deficiency among school-going children in Kolkata. The overall low prevalence of deficiency in an urban malaria-affected region suggests distinct regional genetic patterns and highlights the need for broader population-based studies. The findings reinforce the value of early, school-based screening and support the use of simple point-of-care testing methods for community-wide G6PD surveillance.

DOI: https://doi.org/10.24321/2455.7048.202505

How to cite this article: Mondal T, Estimation Of G6pd Status And Analysis Of Its Common Genetic Variants In The School Going Population Of Kolkata. Epidem Int. 2025;10(2):4-10.