RELATIONSHIP BETWEEN GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND UGT1A1 GENOTYPES IN NEONATES WITH HYPERBILIRUBINEMIA

Hyperbilirubinemia is one of the most common problems in neonates. Homozygosity of substitution/indel in coding and promoter regions of UGT1A1 (encoding uridine diphosphate glucuronosyl transferase 1A1) have been reported to pose additional risk factors for hyperbilirubinemia in glucose-6-phophate dehydrogenase (G6PD)-deficient neonates. The relationship between these mutations on neonatal hyperbilirubinemia has not been investigated in the Northeast Thailand. UGT1A1 TA((7)) promoter mutation and 211G>A variant were analyzed in 108 G6PD-normal and 111 G6PD-deficient neonates with hyperbilirubinemia. There are significant differences in peak total serum bilirubin level among G6PD-normal and -deficient neonates carrying wild type UGT1A1 (n = 67 and 53, respectively), 211A/A (n = 1 and 1), TA((7))/TA((7)) (n = 1 and 1), 211G/A (n = 12 and 17), and TA((6))/TA((7)) (n = 20 and 12). Percent hospital re-admission with hyperbilirubinemia is significantly lower in neonates carrying UGT1A1 TA((6))/TA((7)). Further studies with a larger study population are needed to verify these findings.