先天性凝血因子V缺陷症是一种少见的常染色体隐性遗传性出血性疾病,其出血症状的异质性较大,人们对其分子发病机制知之甚少。近年来随着FV基因的破析,使人们有可能在分子水平对先天性V因子缺乏症进行研究,并发现了多种FV基因的突变形式。这将有利于阐明先天性因子V缺陷症临床表现的差异并最终治愈这一疾病。 Congenital coagulation factor V deficiency is a rare autosomal recessive hemorrhagic disease, hemorrhagic symptoms of heterogeneity larger, people have little understanding of the molecular pathogenesis. In recent years, with the analysis of FV gene, it has been possible to study the congenital V factor deficiency molecularly and to discover the mutated forms of various FV genes. This will help clarify the clinical manifestations of congenital factor V deficiency and eventually cure the disease.