Prevalence and Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency Among Neonates in Akwa Ibom State, South South Nigeria

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy globally and a significant cause of neonatal jaundice and kernicterus in Nigeria. Despite its clinical importance, systematic neonatal screening and genetic characterisation studies from South South Nigeria remain limited. This cross-sectional analytical study determines the prevalence and molecular characterisation of G6PD deficiency among neonates at the University of Uyo Teaching Hospital, Akwa Ibom State. A total of 520 neonates were recruited consecutively over a 12-month period from November 2022 to October 2023. Quantitative G6PD enzyme activity was measured using spectrophotometry on dried blood spot samples. G6PD-deficient neonates underwent PCR-based molecular analysis for common African G6PD gene variants. G6PD deficiency prevalence was 16.3% (males 22.8%, females 9.7%), consistent with a high-burden region. The G6PD A-variant (202G greater than A mutation) accounted for 78.6% of deficient samples, with the A-variant (968T greater than C) representing 14.3%. G6PD-deficient neonates had significantly higher peak serum bilirubin levels and more frequent requirement for phototherapy compared to non-deficient neonates (p less than 0.01). The study provides the first molecular epidemiology data for neonatal G6PD deficiency from Akwa Ibom State, supporting the case for universal newborn screening. Integration of G6PD screening into national newborn screening protocols is urgently recommended. Keywords: G6PD deficiency, neonatal jaundice, molecular epidemiology, Akwa Ibom State, South South Nigeria.