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

OBJECTIVE: To report gene mutations in nine patients with hereditary elliptocytosis（HE）and analyze the characteristics of pathogenic gene mutations in HE. METHODS: The clinical and gene mutations of nine patients clinically diagnosed with HE at Institute of Hematology & Blood Diseases Hospital from June 2018 to February 2022 were reported and verified by next-generation sequencing to analyze the relationship between gene mutations and clinical phenotypes. RESULTS: Erythrocyte membrane protein gene mutations were detected among nine patients with HE, including six with SPTA1 mutation, one with SPTB mutation, one with EPB41 mutation, and one with chromosome 20 copy deletion. A total of 11 gene mutation sites were involved, including 6 known mutations and 5 novel mutations. The five novel mutations included SPTA1: c.1247A>C（p. K416T）in exon 9, c.1891delG（p. A631fs*17）in exon 15, E6-E12 Del; SPTB: c.154C>T（p. R52W）; and EPB41: c.1636A>G（p. I546V）. Three of the six patients with the SPTA1 mutation were SPTA1 exon 9 mutation. CONCLUSION: SPTA1 is the most common mutant gene in patients with HE.