Wang Jun-Fang, Ma Li, Gong Xiao-Hui, Cai Cheng, Sun Jing-Jing
Department of Neonatology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China.
World J Clin Cases. 2021 Jul 6;9(19):5245-5251. doi: 10.12998/wjcc.v9.i19.5245.
Hereditary spherocytosis (HS) is a common type of hemolytic anemia caused by a red cell membrane disorder. HS type 1 (HS1) is mostly caused by mutations in ankyrin (). Newborns with HS1 usually only exhibit anemia and mild jaundice. We herein report a case of HS1 and discuss its clinical characteristics.
A 2-d-old male full-term newborn was admitted to our hospital with severe, intractable neonatal jaundice. Laboratory investigations showed hemolytic anemia and hyperbilirubinemia and excluded immune-mediated hemolysis. The patient underwent two exchange transfusions and one plasmapheresis resulting in significantly reduced serum bilirubin. Hematologic analyses and genomic DNA sequencing studies were performed. The trio clinical exome sequencing revealed a null heterozygous mutation in the patient's gene: c.841C > T(p.Arg281Ter). This mutation results in the premature termination of the ANK1 protein.
Our case demonstrates that genetic analysis can be an essential method for diagnosing HS when a newborn has severe hyperbilirubinemia.
遗传性球形红细胞增多症（HS）是一种由红细胞膜紊乱引起的常见溶血性贫血类型。1型遗传性球形红细胞增多症（HS1）主要由锚蛋白（ANK1）突变引起。患有HS1的新生儿通常仅表现出贫血和轻度黄疸。我们在此报告一例HS1病例并讨论其临床特征。
一名2日龄足月男婴因严重难治性新生儿黄疸入院。实验室检查显示溶血性贫血和高胆红素血症，并排除了免疫介导的溶血。该患者接受了两次换血治疗和一次血浆置换，血清胆红素显著降低。进行了血液学分析和基因组DNA测序研究。三联体临床外显子组测序显示患者ANK1基因存在一个无效杂合突变：c.841C>T（p.Arg281Ter）。该突变导致ANK1蛋白过早终止。
我们的病例表明，当新生儿患有严重高胆红素血症时，基因分析可能是诊断HS的重要方法。
