Identification of Heterozygotes for Hemophilia B and VWD by Discriminant Analysis

J.B. Graham, R.C. Elston, C.H. Miller, L.R. Goldin, C.K. Kasper
1979 VIIth International Congress on Thrombosis and Haemostasis   unpublished
Published data from California (Blood 50:351, 1977) and unpublished data from N.C. on carriers of hemophilia B were examined statistically to determine the optimal methods of identifying the carriers. Factor IX:C assays were available on both groups, and IX:Ag assays were also available on the California women. Linear and quadratic discriminant analysis, univariate and bivariate, with and without the "jack-knife" procedure were utilized. The carriers from California were divided into 29 CRM-
more » ... ded into 29 CRM- and 18 non-CRM-(CRM+) from the phenotypes of their male relatives. It was found that univariate linear discriminant analysis of IX:Ag assays was optimal for CRM- carriers, and l inear bi variate ana lysis of IX:C and IX:Ag assays for CRM+ carriers.Identifying heterozygotes for vWd was done most efficiently (81%) by trivariate linear I discriminant ana lysis utilizing assays for VIII:C, VIIIR:Ag, and VIIIR:WF. This was superior to: i) any single test alone (VIII:C; 15%, BT;17%, VIIIR:Ag;27%, VIIIR:W F;42%), ii) abnormal ratios (23%), and iii) one ab normal test of any type (58%). It was possible to identify asymtomatic "transmitters" as heterozygotes, even some who had all tests in the normal range.
doi:10.1055/s-0039-1687319 fatcat:prq6thllevcsroq2jodhuz3i5a