title: Screening for glucose-6-phosphate dehydrogenase deficiency can prevent severe neonatal jaundice.
abstract: Infants with the severe variant of glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop hyperbilirubinaemia sufficiently severe to cause kernicterus and death, acute haemolysis on exposure to oxidant stress, congenital non-spherocytic haemolytic anaemia and, rarely, increased susceptibility to bacterial infection. In spite of these potential problems, G6PD deficiency is often not included among screening programmes for inherited disorders. In a comprehensive screening and educational programme, we tested around 34,000 infants for G6PD deficiency. Of the total group, 18.4% (24.5% boys and 11.8% girls) were deficient. Forty-two of the 6246 (0.67%) G6PD-deficient infants required exchange transfusion. None of them developed kernicterus. By contrast, of 4755 infants who had not been screened because they were born at home, three developed kernicterus. In addition, four G6PD-deficient infants had developed kernicterus in the 20-month period prior to the screening programme. None of the hyperbilirubinaemic infants had blood group incompatibility or any other identifiable cause of hyperbilirubinaemia. To avoid this disastrous result, we believe that neonatal screening for G6PD deficiency, together with a comprehensive education programme, is advisable in those parts of the world where the severe variant of G6PD deficiency is prevalent.
authors.affiliation: Department of Pediatrics, Dhahran Health Center, Saudi Arabia.
authors.forename: A A
authors.initials: AA
authors.lastname: Mallouh
authors.forename: G
authors.initials: G
authors.lastname: Imseeh
authors.forename: Y K
authors.initials: YK
authors.lastname: Abu-Osba
authors.forename: J A
authors.initials: JA
authors.lastname: Hamdan
mesh_terms: D005240:Feasibility Studies; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology / Q000517:prevention & control*; D007647:Kernicterus / Q000209:etiology / Q000517:prevention & control*; D008297:Male; D015997:Neonatal Screening