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Thromb Haemost 1979; 42(01): 332
DOI: 10.1055/s-0039-1687319
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Factor VIII Clotting Antigen and the Genetics of Factor VIII
Schattauer GmbH

Identification of Heterozygotes for Hemophilia B and VWD by Discriminant Analysis

J.B. Graham
1   Div. Thrombosis and Hemostasis, Dept. Pathology, University North Carolina, Chapel Hill, NC, U.S.A
2   Dept. Medicine, University Southern California, Los Angeles, CA, U.S.A
,
R.C. Elston
1   Div. Thrombosis and Hemostasis, Dept. Pathology, University North Carolina, Chapel Hill, NC, U.S.A
2   Dept. Medicine, University Southern California, Los Angeles, CA, U.S.A
,
C.H. Miller
1   Div. Thrombosis and Hemostasis, Dept. Pathology, University North Carolina, Chapel Hill, NC, U.S.A
2   Dept. Medicine, University Southern California, Los Angeles, CA, U.S.A
,
L.R. Goldin
1   Div. Thrombosis and Hemostasis, Dept. Pathology, University North Carolina, Chapel Hill, NC, U.S.A
2   Dept. Medicine, University Southern California, Los Angeles, CA, U.S.A
,
C.K. Kasper
1   Div. Thrombosis and Hemostasis, Dept. Pathology, University North Carolina, Chapel Hill, NC, U.S.A
2   Dept. Medicine, University Southern California, Los Angeles, CA, U.S.A
› Author Affiliations
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Publication History

Publication Date:
26 April 2019 (online)

 
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    Published data from California (Blood 50:351, 1977) and unpublished data from N.C. on carriers of hemophilia B were examined statistically to determine the optimal methods of identifying the carriers.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- 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.


     

     


     
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