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

Clinically apparent jaundice is unusual in patients with β‐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 β‐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]. Pediatr Blood Cancer 2010;54:627–628. © 2009 Wiley‐Liss, Inc.