一名患有库姆斯试验阴性溶血性黄疸的新生儿中与遗传性球形红细胞增多症相关的新发c.1000delA ANK1突变的鉴定——病例报告及文献综述
Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature.
作者信息
Xie Lichun, Xing Zhihao, Li Changgang, Liu Si-Xi, Wen Fei-Qiu
机构信息
The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, China.
Department of Hematology/Oncology, Shenzhen Children's Hospital, No. 7019 Yitian Rd, Shenzhen, Guangdong, China.
出版信息
BMC Med Genomics. 2021 Mar 11;14(1):77. doi: 10.1186/s12920-021-00912-3.
BACKGROUND
To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many different mutations result in HS, including mutations in ANK1.
CASE PRESENTATION
A term neonate presented at ten hours with severe jaundice requiring exchange transfusion. At two months he was hospitalized due to repeated pallor and anemia requiring blood transfusions. Using next-generation sequencing, we discovered the responsible mutation in the proband but not in his parents; a heterozygous nucleotide variation of c.1000delA (p.1334Sfs*6) in ANK1. Thus hereditary spherocytosis was diagnosed.
CONCLUSIONS
Genetic detection is an important means of discovering the cause of hemolytic anemia in neonates and infants where routine diagnostic tests are unrevealing. We found a novel de novo mutation, c.1000delA (p.1334Sfs*6) in ANK1 that might account for other cases of HS in the Chinese population.
背景
加强对遗传性球形红细胞增多症（HS）的认识，并确定新生儿黄疸所存在的致病突变。HS是一种由各种红细胞膜缺陷导致的溶血性疾病。许多不同的突变会导致HS，包括ANK1基因的突变。
病例报告
一名足月儿在出生10小时时出现严重黄疸，需要进行换血治疗。两个月时，他因反复面色苍白和贫血需要输血而住院。通过下一代测序，我们在先证者中发现了致病突变，但在其父母中未发现；ANK1基因中存在一个杂合核苷酸变异c.1000delA（p.1334Sfs*6）。因此诊断为遗传性球形红细胞增多症。
结论
基因检测是在常规诊断测试无法揭示病因时发现新生儿和婴儿溶血性贫血病因的重要手段。我们在ANK1基因中发现了一个新的新生突变c.1000delA（p.1334Sfs*6），这可能解释中国人群中其他HS病例。
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