遗传性球形红细胞增多症ANK1基因新发突变——2例病例报道及文献复习  

De novo ANK1 mutations associated with hereditary spherocytosis:Report of two cases and review of literature

作　　者：王彩丽[1] 张景荣[1] WANG Cai-Li;ZHANG Jing-Rong(Department of Hematology,Guiyang Maternal and Child Health Care Hospital,Guizhou,Guiyang 550003,China)

机构地区：[1]贵阳市妇幼保健院血液科,贵阳550003

出　　处：《中国免疫学杂志》2020年第8期997-1000,共4页Chinese Journal of Immunology

基　　金：贵州省贵阳科技计划项目(筑科合同[2018]1-39号)资助。

摘　　要：目的:提高对遗传性球形红细胞增多症(HS)ANK1基因突变的认识。方法:回顾性分析2例存在ANK1基因新发突变的HS患儿的临床资料,并文献复习。结果:两例患儿均因贫血就诊。查体巩膜黄染,脾脏肿大。血常规呈正细胞正色素贫血,网织红细胞升高。胆红素升高,以间接胆红素升高为主。例1红细胞形态、脆性检查正常。基因测序分析,ANK1基因剪切突变(NM_001142446;exon 9)c.1008+1_1008+2insG(splicing)。例2外周血涂片球形红细胞增多,红细胞脆性增加。基因测序分析,ANK1基因一无义突变(NM_001142446;exon9)c.940C>T(p.R314X)。两例Sanger测序患儿父母均未发现ANK1的突变。目前国内外至少报道了ANK1基因与HS有关的111个重要突变,本文病例临床表现符合HS,ANK1基因突变均未被HGMD数据库收录,无文献报道。结论:本例患儿符合HS的临床特点,新发现的ANK1基因突变可能是致病原因,基因检测可协助诊断HS。Objective:To improve the understanding of ANK1 gene mutation in hereditary spherocytosis(HS)and update the literature.Methods:The clinical data of 2 cases of HS with novel mutation of ANK1 gene were retrospectively analyzed and the literature was reviewed.Results:Both cases were treated for anemia.Physical examination:yellow staining of sclera,hepatosplenomegaly.Routine blood test indicated positive normochromic anemia and increased reticulocyte count.Serum bilirubin,mainly indirect bilirubin,was increased in two cases.The morphology and fragility of red blood cell were normal.A novel splice site mutation in the ANK1 gene was found in the child(NM_001142446;exon9)c.1008+1_1008+2insG(splicing).Peripheral blood smears showed spherocytosis and increased erythrocyte fragility.Sequencing analysis showed a nonsense mutation in ANK1 gene(NM_001142446;exon9)c.940C>T(p.R314X).No ANK1 mutation were found in there parents with Sanger sequencing in two cases.Up to now,at least 111 mutations of ANK1 gene had been reported to be relevant to HS.The clinical manifestations of the two cases are consistent with HS.2 novel ANK1 gene mutations were found which have neither been reported before nor been included in the HGMD database.Conclusion:The clinical manifestations of the two cases conform to the feature of HS.Two novel mutations of ANK1 gene mutation may be the cause of HS.Gene detection can assist in the diagnosis of HS.

关 键 词：ANK1基因 遗传性球形红细胞增多症 新发突变 

分 类 号：R555.1[医药卫生—血液循环系统疾病]