Mutation Detection Rate in Female Patients with Reduced Factor VIII Activity and Negative Family History for Hemophilia A

摘要

It is well known that the factor VIII activity (FVIILC) is significantly reduced in about 20% of the female carriers of mutations in the F8 gene. Consequently these women are prone to bleeding after surgery or trauma and a factor VIII substitution could be indicated to avoid such complications. However, the question how many percent of women with reduced FVIILC and negative family history for hemophilia A are carriers of a mutation in the F8 gene remains unresolved. In this report we face this important issue.