G6PD Deficiency and G6PD (Mediterranean and Silent) Polymorphisms in Egyptian Infants with Neonatal Hyperbilirubinemia

Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited cause of neonatal hemolytic anemia and jaundice. We investigated the prevalence of G6PD deficiency (Mediterranean and silent) polymorphisms in Egyptian infants with neonatal hyperbilirubinemia. Methods: Fifty full-term infants with neonatal jaundice were included. All patients were subjected to a routine hematologic evaluation, total and indirect serum bilirubin levels, direct Coombs test, qualitative evaluation of G6PD enzyme activity, and detection of G6PD Mediterranean and silent mutations by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: There were 21(42%) patients who were G6PD deficient; 29 (58%) had normal activity of the enzyme. Among the G6PD deficient patients, 7/21 (33.3%) had Mediterranean mutation and 6/21 (28.6%) had silent mutation. Conclusion: Our findings, together with other reports, provide data on the prevalence of the Mediterranean variant in Egyptian infants. Further characterization of the G6PD variants requires molecular studies, including analysis of the entire G6PD coding sequence.