First molecular characterization of a patient with combined factor V and factor VII deficiency.

Patient and methods Family history The proband is a 5-year-old female who presented with microscopic hematuria and mild mucosal bleeding. Laboratory evaluation demonstrated a prolonged PT and a normal aPTT, and she was found to have 45% FV activity and 38% FVII activity. Her father has a history of delayed wound healing and mild mucosal bleeding. The father’s FV activity was high normal (151%), and his FVII activity was decreased (55%). Her mother has history of mild epistaxis, menorrhagia, and gingival bleeding. The mother’s FV activity was 42%, and her FVII activity was in the low normal range (65%) (Table 1).