124例遗传性凝血因子Ⅶ缺陷症患者基因型与临床表型  

Genotype and clinical phenotype of 124 patients with hereditary coagulation factor Ⅶ deficiency

作　　者：王安资 陈姝[1] WANG Anzi;CHEN Shu(Department of Hematology,The Second Affiliated Hospital of Chongqing Medical University,Chongqing 400010,China)

机构地区：[1]重庆医科大学附属第二医院血液内科,重庆400010

出　　处：《检验医学与临床》2020年第22期3233-3236,共4页Laboratory Medicine and Clinic

摘　　要：目的探讨124例遗传性凝血因子Ⅶ缺陷症患者基因型、临床表型及二者间的关系。方法从PubMed、中国知网(CNKI)、维普中文科技期刊数据库、万方数据知识服务平台、中国生物医学文献数据库(CBM)搜集1981-2019年全部关于凝血因子Ⅶ缺陷症的文献,并筛选出符合标准的共计124例患者的临床资料进行回顾性分析。结果124例凝血因子Ⅶ缺陷症患者共有57种基因突变,高危出血基因型有Arg304Trp、Thr359Met、His408Gln、IVS5-1G>A、Arg277Cys、Arg152Leu、Tyr128Cys、Arg364Gln、27/28delCT、11520/11521insT、11487-9CCCdelC、26/27delTC;在纯合子患者中,出现中枢神经系统出血的是IVS5-1G>A、IVS6-1G>A基因型者;出现消化道出血的是IVS5-1G>A、Thr359Met、27/28delCT基因型者;出现关节血肿的是26/27delTC,Tyr128Cys基因型者。出血程度与构成基因的合子型有关(P=0.040);杂合子与纯合子的出血程度差异有统计学意义(P=0.036)。出血程度与凝血酶原时间(PT)、凝血因子Ⅶ活性(FⅦ:C)无关(P=0.320、0.326)。结论遗传性凝血因子Ⅶ缺陷症在我国目前有57种凝血因子Ⅶ基因突变,12种高危出血基因型,出血程度与合子型有关,杂合子患者出血程度轻,纯合子患者出血程度重,出血程度与PT、FⅦ:C无关。Objective To investigate the genotype,clinical phenotype and the relationship between 124 patients with hereditary coagulation factor Ⅶ(FⅦ)deficiency.Methods All clinical data on hereditary FⅦ deficiency frome 1981 to 2019 were collected from the Pubmed,China National Knowledge Infrastructure(CNKI),Weipu Chinese Science,Technology Journal Database and Wanfang Date Knowledge Platform and Chinese Biomedical Literature Databse(CBM),and 124 cases of the clinical data meeting the criteria were selected for retrospective analysis.Results There were 57 FⅦ gene mutations in 124 patients with hereditary FⅦ deficiency,the high-risk bleeding genotypes were Arg304Trp,Thr359Met,His408Gln,IVS5-1G>A,Arg277Cys,Arg152Leu,Tyr128Cys,Arg364Gln,27/28delCT,11520/11521insT,11487-9CCCdelC,26/27delTC.For homozygous patients,the genotypes of central nervous system bleeding were IVS5-1G>A,IVS6-1G>A;the genotypes of gastrointestinal bleeding were IVS5-1G>A,Thr359Met,27/28delCT;the genotypes of joint hematoma were 26/27delTC,Tyr128Cys.The degree of bleeding was related to different zygosity of genes(P=0.040),and the degree of bleeding between heterozygous and homozygous patients was statistically significant(P=0.036).The degree of bleeding was not related to PT and FⅦ:C(P=0.320,0.326).Conclusion There were 57 FⅦ gene mutations and 12 high-risk bleeding genotypes for hereditary FⅦ deficiency in China.The degree of bleeding was related to zygosity.The bleeding degree of heterozygous patients was mild,while homozygous patients was severe.The degree of bleeding was unrelated to PT and FⅦ:C levels.

关 键 词：遗传性凝血因子Ⅶ缺陷症 基因型 临床表型 

分 类 号：R446.9[医药卫生—诊断学]