Carrier detection in factor VII congenital deficiency

G. Mariani, J. Hermans, M. Orlando, M. G. Mazzucconi, N. Ciavarella, A. Faiella, M. Berrettini, A. Chistolini, G. D. Di Nucci, P. M. Mannucci

Research output: Contribution to journalArticlepeer-review

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+, VII(R) 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 VII(R) 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.

Original languageEnglish
Pages (from-to)687-694
Number of pages8
JournalBritish Journal of Haematology
Volume60
Issue number4
Publication statusPublished - 1985

ASJC Scopus subject areas

  • Hematology

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