Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues

Abstract

The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutation had resulted in attenuation of clinical features.

Keywords

• Factor V Leiden mutation
• hemophilia A
• phenotypical expression