Carrier detection in factor VII congenital deficiency |
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| Authors: | M. R. Pinto M. A. King G. D. Goss W. R. Bezwoda F. Fernandes-Costa B. Mendelow T. P. McDonald E. Dowdle R. Bernstein |
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| Affiliation: | Department of Human Biopathology, Section of Haematology, University of Rome, Italy;Department of Medical Statistics, State University of Leiden, The Netherlands;Department of Haematology, Istituto Superiore di Sanità, Rome, Italy;Haemophilia and Thrombosis Centre, Istituto Clinica Medica II. University of Bari, Italy;Service of Immunohaematology, Ospedale Regionale Pausilipion, Naples, Italy;Institute of Medical Semeiotics, University of Perugia, Italy;Haemophilia and Thrombosis Centre, Angelo Bianchi Bonomi, University of Milan, Italy |
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| Abstract: | ![]()
Thirty obligate and 28 possible carriers of factor VII congenital deficiency, belonging to 16 families, were studied in relation to the immunological variants to which the kindreds belonged, namely, VII+, VIIR and VII-. Factor VII activity and antigen determinations in these subjects formed two phenotypical patterns: a discrepant pattern characterized by a low ratio activity/antigen present in VII+ heterozygotes, and a non-discrepant pattern (normal ratio activity/antigen) which is present in the VII- and VIIR variants. In the first genetic variant the detection of carriers can be performed using the ratio VII:C/VII:Ag. In the other variant, which accounts for the vast majority of heterozygotes, the distribution of the carriers' factor VII is so widespread that a large overlap results between these subjects and the normals. The application of a probabilistic calculation performed by combining the actual values of factor VII:C and the genetic probability of carriership using Fisher's linear discriminant analysis, makes discrimination between carriers and normals easier. |
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