Pathological jaundice in full-term newborns and Gilbert’s syndrome

Abstract

Background: In the course of our research on polymorphism in the UGT1A1 gene of healthy full-term newborns, we studied the relationship between pathological jaundice and the newborn’s genotype. The latter could be one of the risk factors for hyperbilirubinemia. The possibility of a pharmacogenetic approach for treating individuals with Gilbert’s syndrome was investigated since the polymorphism may influence the toxic metabolism of certain therapeutic drugs. Methods: Blood was collected from 185 healthy full-term newborns, born in May 2009, on the third day of life. Bilirubin was measured according to the Jendrassik-Grof method and all samples were genotyped (dHPLC method). ANOVA, χ2–test and t – test were used for statistical analysis. Results: A significant association of genotype with bilirubin levels was observed (p< 0.001), the highest bilirubin level occurring with the genotype (TA)7/7, characteristic of Gilbert ‘s syndrome; 68 of the 185 newborns had pathological jaundice; 20 cases were so severe that they needed phototherapy during hospitalization. Differences in bilirubin levels between the groups with clinical characteristics of jaundice were statistically significant (physiological / pathological (p< 0.001) and irradiated / nonirradiated (p = 0,034)). The genotype (TA)7/7 was significantly more frequent in the group with pathological jaundice than in the group with physiological jaundice (p = 0,028). The results confirm that Gilbert’s syndrome can be one of the factors contributing to pathological jaundice in healthy full-term newborns. polymorphism in the UGT1A1 gene of healthy full-term newborns, we studied the relationship between pathological jaundice and the newborn’s genotype. The latter could be one of the risk factors for hyperbilirubinemia. The possibility of a pharmacogenetic approach for treating individuals with Gilbert’s syndrome was investigated since the polymorphism may influence the toxic metabolism of certain therapeutic drugs. Conclusions: The results suggest that, besides the screening test for determining cord blood bilirubin, genetic screening should be carried out in newborns with pathological jaundice to identify individuals with Gilbert’s syndrome.