6例新发突变致遗传性球形红细胞增多症单中心分析  

Analysis of 6 cases of hereditary spherocytosis caused by new mutations:A single-center study

作　　者：赵晶晶 李军利 李瑞君 赵磊 马艳 刘建平 ZHAO Jingjing;LI Junli;LI Ruijun;ZHAO Lei;MA Yan;LIU Jianping(Department of Pediatrics,Inner Mongolia Maternal and Child Health care hospital,Hohhot 010010,China)

机构地区：[1]内蒙古自治区妇幼保健院儿科,呼和浩特市010000

出　　处：《中国小儿血液与肿瘤杂志》2024年第4期249-255,共7页Journal of China Pediatric Blood and Cancer

摘　　要：目的探究遗传性球形红细胞增多症(HS)的临床以及遗传学特征。方法总结2019年8月—2023年10月临床明确诊断的6例HS患者的临床以及实验室检查特点,应用二代测序技术检测这6例HS患者红细胞膜蛋白基因突变情况,分析基因突变构成、突变类型。结果6例HS患者中,ANK1基因突变者2例,SPTB基因突变者3例,SPTA11例。6例患者中无义突变2例,错义突变1例,剪切突变1例,移码突变2例;其中病例1分别接受了来自父亲母亲的杂和变异,来自于母亲的突变为无义突变,其母有HS临床表现,来自于父亲的突变为错义突变,其父无临床表现;在6例HS患者中病例2、病例6为自发突变。结论HS是一种由于红细胞膜蛋白异常导致的遗传性溶血性疾病,基因检测可确诊。Objective To investigate the clinical and genetic characteristics of children with hereditary spherocytosis(HS).Methods The clinical and laboratory characteristics of 6 patients with HS who were clinically diagnosed from August 2019 to October 2023 were summarized,and the mutation of erythrocyte membrane protein gene in these 6 patients was detected by second-generation sequencing technology,and the mutation composition and type of gene mutation were analyzed.Results Among the 6 HS patients,2 cases were with ANK1 gene mutation,3 cases with SPTB gene mutation and 1 with SPTA1 gene mutation.Among the 6 patients,there were 2 cases of nonsense mutation,1 case of missense mutation,1 cases of shear mutation,and 2 cases of frameshift mutation.Among them,case 1 received miscellaneous mutations from the father and mother,the mutation from the mother was nonsense,the mother had HS clinical manifestations,the mutation from the father was missense mutation,and the paternal mutation had no clinical manifestations.Among the 6 patients with HS,of which cases 2 and 6 were spontaneous mutations.Conclusions HS is a hereditary hemolytic disease caused by abnormal erythrocyte membrane protein,which can be confirmed by genetic test.

关 键 词：遗传性球形红细胞增多症 ANK1基因 SPTB基因 遗传 

分 类 号：R725.5[医药卫生—儿科]