Newborn screening for Glucose-6-Phosphate Dehydrogenase Deficiency in Eastern Province, Saudi Arabia

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an x-linked recessive disorder expressed mostly in males. Patients with G6PD deficiency may present clinically with evidence of hemolytic anemia in the neonatal period or later in life, or may remain asymptomatic. The aim of this study was to determine the incidence of G6PD deficiency in Saudi infants screened at birth. All Saudi infants born at Saad Specialist Hospital in Al-Khobar, Saudi Arabia between January 2005 and January 2006 were screened for G6PD at birth. Umbilical cord blood samples were taken and analyzed using ultraviolet quantitative kinetic method. Results showed that out of 1366 infants screened at birth G6PD deficiency was confirmed in 173 infants (incidence 126 per1000 live birth). One third of the G6PD-deficient infants were females. More than half of G6PD-deficient infants had severe enzyme deficiency while 37 (21.3%) developed neonatal jaundice requiring phototherapy. In conclusion the incidence of G6PD deficiency was high in the screened infants.