Six of eight examined members belonging to two generations of the same (NEG-TUR) family were shown to have functional changes in platelets and/or a moderate decrease of factor VIII activity (FVIII:C) in plasma, with normal values of factor VlII-related antigen (VIII R:AG). Platelet defects (mainly a reduced PF 3 availability, present in five patients) and factor VIII decrease were combined differently in individual members. Only two male members with both the PF 3 and FVIII:C defects had moderate haemorrhagic symptoms following traumatic injuries. One of them had also an absent adhesiveness to glass, the other one an absent adhesiveness to collagen and a reduced platelet aggregation by ADP and by collagen. Bleeding time, platelet function tests (in the other members), and routine coagulation tests were within normal range; ristocetin aggregation was also normal in all members. We think that two inherited defects, a mild haemophilia A and a ‘sui generis’ thrombocytopathy, co-exist in this family.

Keywords:
Bleeding disorders, Factor VIII deficiency, Haemophilia, Platelet disorders, Thrombopathies
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© 1977 S. Karger AG, Basel
1977
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