Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome

The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient n ewborns. The recent identification of a variant promoter in the gene encodi ng for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) as sociated with Gilbert's syndrome, allowed us to explore whether the presenc e of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficie ncy. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing seve re hyperbilirubinemia and in control subjects from the same population. Thi s finding indicates that the variant promoter of UGT-1 A does not contribut e to the development of hyperbilirubinemia in the newborn.