遗传性凝血因子Ⅶ(FⅦ)缺乏症是一种在临床上非常少见的出血性疾病,常与FⅦ基因缺陷有关,其临床表型往往与FⅦ基因的突变类型及突变区域密切相关。近年来国际上相继进行了几个较大的遗传性FⅦ缺乏症相关研究的合作项目,发现了新的基因突变,丰富了疾病相关基因突变数据库,而且在疾病基因治疗方面也取得了可喜的进展。 Hereditary factor Ⅶ (FⅦ) deficiency is a very rare clinical bleeding disorder, often associated with defects in the F Ⅶ gene. Its clinical phenotype is often closely related to the mutation type and mutation region of the F Ⅶ gene. In recent years, several major collaborative projects on genetically related studies of hereditary FⅦ deficiency have been carried out in succession in the world. New gene mutations have been found, and database of disease-related gene mutations has been enriched, and gratifying progress has also been made in disease gene therapy .