中国输血杂志2023，Vol.36Issue(12)：1140-1142,3.DOI:10.13303/j.cjbt.issn.1004-549x.2023.12.014
血友病A伴凝血因子Ⅺ减少症
Hemophilia A with reduced coagulation factor Ⅺ:a case report and literature review
摘要
Abstract
Objective To investigate the possible molecular pathogenesis of a child with hemophilia A accompanied by coagulation factor Ⅺ reduction by testing coagulation-related indicators and genotyping in the child and his family.Methods Peripheral blood from the patient and his parents for detection of coagulation factorsⅧ,Ⅸ,Ⅺ,Ⅻ,VWF:Ag,lupus an-ticoagulants and F Ⅷ,F Ⅺ inhibitors were collected.All exons and flanking sequences of the genes encoding FⅧand FⅪwere sequenced and bioinformatically analyzed.Results The child had low FⅧand FⅪactivity and no parental abnormali-ties were observed.The sequencing results showed that there was a c.1834(exon12)C>T heterozygous mutation in the FⅧgene and a c.1817(exon15)G>A heterozygous mutation in the FⅪgene,which was de novo.Bioinformatics analysis shows that the FⅪ mutation changes the original protein structure and increases the number of carboxyl groups.Conclusion For patients with prolonged APTT,in addition to excluding factors that interfere with APTT testing,all coagulation factors related to APTT should be tested to clarify the diagnosis.关键词
凝血因子Ⅷ/凝血因子Ⅺ/基因突变/二代测序/手术Key words
Factor Ⅷ/Factor Ⅺ/gene mutation/second-generation sequencing/surgery分类
医药卫生引用本文复制引用
王杰,李强,张磊,邵静茹,王甜甜,程彦,张心声,张雪芹,房云海..血友病A伴凝血因子Ⅺ减少症[J].中国输血杂志,2023,36(12):1140-1142,3.基金项目
山东省医药卫生科技发展计划项目(202103040601) （202103040601）
