Interpatient phenotypic inconsistency in severe congenital hemophilia: a systematic review of the role of inherited thrombophilia.

摘要: It is well known that the clinical phenotype of hemophilia may vary greatly among patients with same apparent level coagulation factor and genetic mutation. Thus, severe experience a or only milder bleeding tendency, suggesting some other moderating influence. To elucidate mechanism this heterogeneity, investigators have recently suggested inherited thrombophilic factors play role in presentation hemophilia. In review, we summarize current knowledge respect to modulation by prothrombotic risk factors. Although published literature seems indicate protective effect for coinheritance V Leiden, limited data available do not permit any firm conclusions. Further trials on large population are needed establish thrombophilia phenotypic expression