title: Combined congenital deficiency of factor V and factor VIII. Report of a further case with some considerations on the hetereditary transmission of this disorder.
abstract: A patient with combined factor V and factor VIII deficiency is presented. The bleeding manifestations were mild. The main laboratory feature was a prolonged partial thromboplastin time which was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum, hemophilia A plasma or plasma of another patient with combined factor V and factor VIII deficiency. TGT was also clearly abnormal and was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum. Prothrombin consumption was mildly defective. The prothrombin time was slightly prolonged. Facotr VIII was 12% and factor V 55% of normal. Factor-VIII-associated antigen was normal. The father and a sister of the propositus revealed mild factor V deficiency but normal factor VIII activity and antigen. The parents were not consanguineous. A tentative classification of combined deficiency of factors V and VIII in two groups is proposed. The hereditary transmission of the two types of deficiencies is discussed.
mesh_terms: D000328:Adult; D005166:Factor V Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics; D006467:Hemophilia A / Q000097:blood / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree