GENETICS OF CLASSIC VON WILLEBRANDS DISEASE .2. OPTIMAL ASSIGNMENT OF THE HETEROZYGOUS GENOTYPE (DIAGNOSIS) BY DISCRIMINANT-ANALYSIS

  • 1 January 1979
    • journal article
    • research article
    • Vol. 54  (1) , 137-145
Abstract
In classic von Willebrand''s disease (vWd), assignment of the heterozygous genotype for genetic studies and diagnosis for clinical purposes (which are not exactly the same) are formidable problems. Almost 50% of the members of 2 large kindred who transmitted this disease, (and who were therefore heterozygous), were scored as normal by the usual tests of hemostasis. This large proportion can be significantly reduced by application of discriminant analysis. The use of linear discriminants in 3 variables.sbd.coagulation factor VIII (VIII:C), factor-VIII-related antigen (VIIIR:Ag), and the ristocetin cofactor related to factor VIII (VIIIR:WF).sbd.enabled the classification of > 80% of the heterozygous transmitters in the 2 large kindreds. The 4 parents of 2 related vWd homozygotes were scored as heterozygous by discriminant analysis even though all laboratory tests were within the normal ranges.