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  • Title: Carrier detection in hemophilia A: ABO blood group, multiple measurements, and application of logistic discrimination.
    Author: Percy ME, Rusk AC, Garvey MB, Freedman JJ, Teitel JM, Blake P, Carter C, Andrew M, Johnson M, Inwood M.
    Journal: Am J Med Genet; 1988 Dec; 31(4):871-9. PubMed ID: 3149148.
    Abstract:
    In healthy 20- to 50-year-old women, the ABO blood group has a significant effect on levels of von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) and on factor VIII activity (F.VIII:C). However, there is no significant effect of ABO group or subject age on the ratio log e(F.VIII:C/VWF:Ag). Multiple measurements of the "ratio" on possible carriers of hemophilia A may be combined with pedigree information using logistic discrimination to yield final risk assessment. To reduce misclassification of carriers as normal women, a lower limit, specified by the logistic model, is set on the logistic carrier probabilities. In this study, the proportion of blood group A for a population of obligate carriers was significantly higher than that expected for the general population (60% vs. 42%); for a population of control women it was lower than expected (22.5 vs. 42%). The effect for the carriers came primarily from daughters of affected fathers, as 81.3% were of blood group A. These observations indicate that a "universal" discriminant should be applied with caution.
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