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Biological findings in Von Willebrand's pedigrees: implications for inheritance
  1. Dominique Meyer,
  2. Marie-José Larrieu,
  3. Pierre Maroteaux,
  4. Jacques P. Caen
  1. Laboratoire d'Hémostase, Institut de Recherches sur les Maladies du Sang, Hôpital Saint-Louis, Paris

    Abstract

    Thirty-one subjects from three families affected by Von Willebrand's disease have been investigated with the following tests: Ivy's bleeding time; platelet adhesiveness according to Salzman; two-stage factor VIII assay. Twelve patients have a complete form of the disease, i.e., a prolonged bleeding time with low platelet adhesiveness, and a reduced factor VIII level. Eight subjects have an isolated low platelet adhesiveness associated in three cases with a prolonged bleeding time. The low platelet adhesiveness in these subjects was corrected, as in Von Willebrand's disease, by infusion of haemophilia A plasma. The dominant autosomal mode of inheritance appears to be due to a pleiotropic gene, expressed in a variety of ways

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