Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case

2019

: 1例主诉为"皮肤发黄6个月余加重3 d"的患儿，综合其临床症状、实验室检查及肝脏病理结果，并完善基因测序示SPTB基因移码突变：c.1791delG，为新发突变。诊断为遗传性球形红细胞增多症。以胆汁淤积起病的遗传性球形红细胞增多症少见。.

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