Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations. OBJECTIVE: To determine the local prevalence of G6PD deficiency in newborns. DESIGN: Cross-sectional. SETTING: University hospital. METHODS: Infants born during 2015 were prospectively screened for G6PD deficiency. Dried blood spot samples on filter paper were collected in collaboration with the central laboratories of the Ministry of Health. Quantitative measurement of G6PD enzyme activity was measured from the blood samples using fluorometric analysis. A value ≤1.3 U/g hemoglobin (Hb) was considered G6PD deficient. MAIN OUTCOME MEASURE(S): G6PD enzyme activity (U/g Hb). RESULTS: Of 2782 screened newborns (1453 males and 1329 females), 2646 (95.1%) newborns were normal, 17 (0.6%) exhibited intermediate deficiency; 119 newborns (91 male newborns; 28 female newborns) were deficient for G6PD for an overall prevalence of G6PD deficiency of 4.3% with a male:female ratio of 3.2:1. Enzyme activity was significantly higher in males than females (P<.014). CONCLUSION: The overall prevalence of G6PD deficiency emphasizes the importance of neonatal screening for early detection and prevention together with proper intervention and genetic counseling. LIMITATION: Lacked authority to collect the samples for testing directly from the local centers.