Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India.
Pediatr Blood Cancer. 2010 Apr;54(4):627-8. doi: 10.1002/pbc.22313.
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].
临床上明显的黄疸在重型β地中海贫血患者中并不常见。有报道称，吉尔伯特综合征的合并遗传可导致这些患者的高胆红素血症。克里格勒-纳贾尔综合征是另一种罕见的胆红素代谢紊乱，由编码 UGT1A1 酶的基因突变引起。我们报告了 1 例β地中海贫血重型患者，由于 UGT1A1 基因第 3 外显子 362 位（GGT>AGT）的纯合碱基取代，导致 2 型克里格勒-纳贾尔综合征合并遗传，出现持续性黄疸。
