Fanconi's anaemia associated with haemophilia A

Abstract

Fanconi's anaemia and haemophilia A are both inherited diseases creating haemostatic defects. The association of these two rare diseases in one patient is described. The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. It was not possible to demonstrate a common bone marrow defect or a common immunological or genetical background of the two diseases. The double haemostatic defect created, i.e. Factor VIII deficiency and thrombocytopenia, resulted in only a slight increase in bleeding tendency. A favourable result was obtained with corticosteroid and androgenic treatment.

Inheritable Molecular Variants of Moderate and Mild Hemophilia A

“…Recently, immunoradiometric methods have been described for determining the antigen associated with VII1:C (V1II:C antigen, VII1:CAg) (6, 10,16). VI1I:CAg is usually not detected in severe hemophilia A (6, 16), but published reports (6, 10,11,17) indicate that it may vary in moderate and mild hemophilia A.…”