title: Neonatal jaundice in Saudi newborns with G6PD Aures.
abstract: Sixty-five of 3261 (2%) Saudi neonates were found to be severely G6PD-deficient during a cord blood screening programme conducted from April to December, 1992. However, at the time of molecular studies, the blood samples were available from only 20 randomly selected children, aged from 1 to 6 years. DNA analyses showed that seven (three boys, four girls) of these 20 (35%) had G6PD Aures (nt 143 T - > C), a variant associated with favism which was recently reported in an Algerian. Twelve carried the G6PD Mediterranean (563 T) mutation, and in one child the mutation remained unidentified. The medical records of these children showed that all who had G6PD Aures, including a premature baby, were jaundiced during the 1st week of life, but only six full-term infants had moderate-to-severe hyperbilirubinaemia. Two of seven babies had seizures and one of these two developed kernicterus, in spite of timely blood transfusion.
authors.affiliation: Department of Medical Research, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.
authors.forename: G A
authors.initials: GA
authors.lastname: Niazi
authors.forename: A
authors.initials: A
authors.lastname: Adeyokunnu
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000032:analysis; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000453:epidemiology* / Q000209:etiology / Q000517:prevention & control; D007647:Kernicterus / Q000209:etiology; D008297:Male; D008969:Molecular Sequence Data; D015997:Neonatal Screening; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D011897:Random Allocation; D012189:Retrospective Studies; D012529:Saudi Arabia / Q000453:epidemiology
chemical_list: D004247:DNA; D005954:Glucosephosphate Dehydrogenase