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].

• Authors: Varun Aggarwal, Anju Seth, Sunita Sharma, Satinder Aneja, Pietro Sammarco, Carmelo Fabiano
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 54 Issue 4 Pg. 627-8 (Apr 2010) ISSN: 1545-5017 [Electronic] United States
• PMID: 19953640 (Publication Type: Case Reports, Journal Article)

Chemical References

• GABA Modulators
• UGT1A1 enzyme
• Glucuronosyltransferase
• Phenobarbital

Topics

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