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

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].

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Aggarwal V,Seth A,Sharma S,Aneja S,Sammarco P,Fabiano C

doi

10.1002/pbc.22313

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

627-8

issue

4

eissn

1545-5009

issn

1545-5017

journal_volume

54

pub_type

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