Published Paper Details:

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent enzymatic disorder of red blood cells worldwide, affecting approximately 400 million individuals. The condition assumes particular clinical significance during the neonatal period because it is a major cause of severe neonatal hyperbilirubinemia, hemolytic anemia, kernicterus, and, in extreme cases, neonatal mortality. G6PD deficiency is inherited as an X-linked recessive disorder caused by mutations in the G6PD gene, resulting in reduced enzyme activity and increased susceptibility of erythrocytes to oxidative stress. Neonates with G6PD deficiency often appear healthy at birth but may rapidly develop jaundice within the first few days of life. Early diagnosis through neonatal screening programs and prompt management are crucial for preventing irreversible neurological damage. This review examines the genetic basis, pathophysiology, epidemiology, clinical manifestations, diagnostic approaches, neonatal screening strategies, and current management practices associated with G6PD deficiency in neonates. The paper also highlights the importance of universal newborn screening in regions with high disease prevalence and discusses future perspectives in precision neonatal care.