| Abstract |
Background : Neonatal hyperbilirubinemia is one of the most common problems of neonates. A variation in the coding region and promoter of the UDP-glucuronosyl transferase 1A1 (UGT1A1) gene were an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient neonates. The relationship between these mutations on hyperbilirubinemia has not been investigated in the northeast Thai neonates.
Objective
To investigated the relationship between G6PD deficiency and UGT1A1 mutation in neonates with hyperbilirubinemia.
Material and method
108 G6PD normal and 111 G6PD deficient were recruited.The UGT1A1 TA(n) and 211G>A were performed. The neonates were classified into six groups, group I: control group; (G6PD-normal with 211G/G,TA6/6), group II (G6PD-deficient with 211G/G,TA6/6), group III (G6PD-normal with 211G/A), group IV (G6PD-deficient with 211G/A), group V (G6PD-normal with TA6/7) and group VI (G6PD-deficient with TA6/7). To assess the association of G6PD deficiency and UGT1A1 mutations on the severity of hyperbilirubinemia, each group were compared with the peak of total serum bilirubin with group I.
Results
The peak of total serum bilirubin in group I was 13.8±2.2 mg/dL and 15.5±3.4, 15.4±2.2, 15.9±2.9, 14.8±2.7, 14.6±2.6 mg/dL in group II, group III, group IV, group V and group VI, respectively. The peak of total serum bilirubin was significant increased than control in group II, group III and group IV (P value = 0.0033, 0.0284 and 0.0009).
Discussion and conclusion
The G6PD-normal, G6PD-deficient neonates with 211G/A mutation and G6PD-deficient neonates with wild type UGT1A1 have the peak total serum bilirubin significantly higher than G6PD-normal with wild type UGT1A1.However,the neonates co-inheriting of TA6/7 with neither G6PD deficient nor G6PD normal showed no statistical significant.Therefore,G6PD deficiency and 211G/A mutation were associated with the severity of neonatal hyperbilirubinemia but TA6/7 is not likely to be associated in this population.
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Publication
Journal Publication
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