Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.

@article{Berardi2006KernicterusAW,
  title={Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.},
  author={Alberto Berardi and Licia Lugli and Fabrizio Ferrari and Giancarlo Gargano and M D'apolito and Agnese Marrone and Achille Iolascon},
  journal={Biology of the neonate},
  year={2006},
  volume={90 4},
  pages={243-6}
}
INTRODUCTION An apparent re-emergence of kernicterus has been recently reported, with some cases occurring in otherwise healthy breastfed newborn. METHODS We describe a case of kernicterus in a term Caucasian newborn. RESULTS An exceptional polymorphism of UGT1A1 gene promoter co-existed with asymptomatic inherited spherocytosis, due to erythroid anion exchange (band-3) deficiency. Both concurred to the development of severe neonatal hyperbilirubinaemia. CONCLUSION As some cases of… CONTINUE READING