Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A

摘要: To determine whether the factor V Leiden mutation is associated with decreased bleeding in individuals severe hemophilia A, concentrate utilization, maximum annual number of episodes, and prevalence hemophilic arthropathy between carriers non-carriers were compared. Heterozygosity for was found 6 137 subjects (4.4%). Carriers utilized less (geometric mean: 310 vs. 1185 units/kg/year) had fewer episodes than (proportion 10 or their worst year: 50 11%). However, not absence arthropathy. The intron 22 inversion VIII gene tested a subgroup 80 subjects, but it to be significant variable any endpoints. results this small study are consistent hypothesis that imparts protective effect; however, larger confirmatory which molecular defects can controlled needed. Furthermore, most hemophiliacs who used 200 units/kg/year experienced per year did carry mutation, suggesting proportion whose mild clinical course attributed small.