Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome

Pediatr Blood Cancer. 2010 Apr;54(4):627-8. doi: 10.1002/pbc.22313.

Abstract

Clinically apparent jaundice is unusual in patients with beta-thalassemia major. Co-inheritance of Gilbert syndrome has been reported to cause hyperbilirubinemia in these subjects. Crigler-Najjar syndrome is another rare disorder of bilirubin metabolism caused by mutation in the gene coding the enzyme UGT1A1. We report a patient of beta-thalassemia major who presented with persistent jaundice due to co-inherited Crigler-Najjar syndrome type 2 secondary to a novel mutation in UGT1A1 gene [homozygous base substitution at position 362 (GGT>AGT) in exon 3].

Publication types

  • Case Reports

MeSH terms

  • Crigler-Najjar Syndrome / complications*
  • Crigler-Najjar Syndrome / genetics*
  • Crigler-Najjar Syndrome / therapy
  • Erythrocyte Transfusion
  • Fatal Outcome
  • GABA Modulators / therapeutic use
  • Glucuronosyltransferase / genetics
  • Humans
  • Infant
  • Jaundice / genetics*
  • Male
  • Mutation
  • Phenobarbital / therapeutic use
  • beta-Thalassemia / genetics*

Substances

  • GABA Modulators
  • UGT1A1 enzyme
  • Glucuronosyltransferase
  • Phenobarbital