Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome.
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].
Aggarwal
Varun
V
Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.
Seth
Anju
A
Sharma
Sunita
S
Aneja
Satinder
S
Sammarco
Pietro
P
Fabiano
Carmelo
C
D003414:Crigler-Najjar Syndrome / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D017707:Erythrocyte Transfusion; D017809:Fatal Outcome; D018757:GABA Modulators / Q000627:therapeutic use; D014453:Glucuronosyltransferase / Q000235:genetics; D006801:Humans; D007223:Infant; D007565:Jaundice / Q000235:genetics*; D008297:Male; D009154:Mutation; D010634:Phenobarbital / Q000627:therapeutic use; D017086:beta-Thalassemia / Q000235:genetics*; D000099148:UGT1A1 Enzyme
D018757:GABA Modulators; D014453:Glucuronosyltransferase; D010634:Phenobarbital; D000099148:UGT1A1 Enzyme