‘Autosomal Haemophilia’: A Variant of von Willebrand's disease

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Abstract
Summary. A patient representing the family with autosomal haemophilia A described elsewhere (Hensen et al, 1965) shows ‘de novo synthesis’ of factor VIII after transfusion with normal and haemophilic cryoprecipitate. Several patients in the family have very low factor VIII‐related antigen levels. These findings are consistent with a diagnosis of von Willebrand's disease but the normal or nearly normal bleeding times and the similarity in factor‐VIII activity levels in all the members of this family are unusual in this condition.Thus far, three loci involved in factor‐VIII synthesis have been postulated. The locus most frequently occupied by a mutant gene is on the X chromosome and results in haemophilia A, a trait long known to be sex‐linked (for instance in ancient Jewish and Arabian literature; see review by Ikkala, 1960). The effects of mutation in an autosomal locus were first described by von Willebrand (1926, 1931). A third locus involved in factor‐VIII synthesis was postulated by Hensen et al (1965). The effects of this mutant gene have been particularly difficult to study because the features that led to postulate its existence have been reported in only one family. This report deals with the evidence that this condition, originally described as ‘autosomal haemophilia’, is only a variant of von Willebrand's disease.