遗传性椭圆形红细胞增多症患者临床及基因突变特征：9例报告及文献复习

目的 报告9例遗传性椭圆形红细胞增多症（hereditary elliptocytosis，HE）患者基因突变类型并分析HE致病性基因突变的特征。 方法 报告中国医学科学院血液病医院2018年6月至2022年2月临床诊断的9例HE患者临床及基因突变特征，应用Sanger测序方法进行验证，分析基因突变构成、突变类型、基因型及与临床表型之间的关系。 结果 9例HE患者中6例为SPTA1、1例为SPTB、1例为EPB41红细胞膜蛋白基因突变，另1例为20号染色体拷贝缺失。共涉及11个基因突变位点，包括6个已知突变和5个新发突变。5个新发突变分别为：SPTA1基因9号外显子c.1247A>C（p.K416T），15号外显子c.1891delG（p.A631fs*17），6～12号外显子Del；SPTB基因c.154C>T（p.R52W）；EPB41基因c.1636A>G（p.I546V）。6例SPTA1突变患者中3例为SPTA1 9号外显子突变。 结论 SPTA1是HE患者最常见的突变基因。

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