Analysis of clinical phenotypes and cenetic mutations in hereditary coagulation factor Ⅶ deficiency:A study of 66 cases
10.13602/j.cnki.jcls.2025.11.07
- VernacularTitle:66例遗传性凝血因子Ⅶ缺陷症的临床表型与基因突变分析
- Author:
Longying YE
1
;
Lihong YANG
;
Yanhui JIN
;
Fengjiao WANG
;
Mingshan WANG
Author Information
1. 福安市人民医院医学检验科,福建福安 355017;温州医科大学附属第一医院医学检验中心,浙江省检验诊断及转化研究重点实验室,浙江温州 325015
- Publication Type:Journal Article
- Keywords:
blood coagulation factor Ⅶ deficiency;
genetic mutations;
bleeding risk;
genotype-phenotype correlation;
prothrombin time
- From:
Chinese Journal of Clinical Laboratory Science
2025;43(11):836-841
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the mutation spectrum of F7 gene and its clinical implications in patients with coagulation factorⅦ(FⅦ)deficiency in the southeastern Chinese population,and to analyze the correlations among genotype,FⅦ activity(FⅦ:C),and bleeding risk.Methods A retrospective analysis was conducted on 66 probands diagnosed with FⅦ deficiency between 2010 and 2024 at The First Affiliated Hospital of Wenzhou Medical University.The clinical data,bleeding scores according to ISTH(Internation-al Society on Thrombosis and Haemostasis),the results of coagulation function tests,and F7 gene sequencing data were collected and analyzed.Results Among the 66 probands,59 cases exhibited severe FⅦ deficiency,of whom 37 presented bleeding symptoms,pri-marily gingival bleeding,epistaxis,and menorrhagia.The most frequent mutation:sp.His408Gln,p.Cys10Profs * 16,and p.Cys389Gly,were clustered in exon 8.Prothrombin time(PT)showed a significant positive correlation with ISTH bleeding scores(P＜0.05),while FⅦ:C demonstrated weak predictive power for bleeding risk.Conclusion Exon 8 and the S1 peptide region of the F7 gene were identified as mutation hotspots,and PT was highlighted as an effective tool for evaluating bleeding risk.Although FⅦ:C levels exhibited only a limited correlation with bleeding risk,genetic mutation analysis provided crucial insights for the molecular diag-nosis and clinical management of FⅦ deficiency.
