Biological findings in Von Willebrand's pedigrees: implications for inheritance

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...

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Bibliographic Details
Published in:Journal of clinical pathology 1967-03, Vol.20 (2), p.190-194
Main Authors: Meyer, Dominique, Larrieu, Marie-José, Maroteaux, Pierre, Caen, Jacques P.
Format: Article
Language:English
Subjects:
Blood Coagulation Tests
Blood Platelets
Factor VIII - analysis
Genes, Dominant
Humans
von Willebrand Diseases - blood
von Willebrand Diseases - genetics
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Summary: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
ISSN:0021-9746
1472-4146
DOI:10.1136/jcp.20.2.190