A comparative study of carrier detection in haemophilia A by linear discriminant function

Br J Haematol. 1982 Oct;52(2):283-93. doi: 10.1111/j.1365-2141.1982.tb03891.x.

Abstract

Blood samples collected from 37 definite carriers, 31 normal women and 64 possible carriers were examined for factor VIII-related activities. Five variables: factor VIII coagulant activity (VIII:C) (X1), factor VIII-related antigen (VIIIR:Ag) (X2), ristocetin co-factor (VIIIR:RC) (X3), ratio of VIIIR:Ag to VIII:C (A/C) (X4) and ratio of VIII:RC to VIII:C (R/C) (X5), and 28 combinations of one to five variables were used to derive 28 linear discriminant functions. The calculation of discriminant function coefficient, individual discriminant score and cut-off point, and the identification of normals or carriers were processed by the computer package of a biomedical computer program used at University of California at Los Angeles. A comparison of 28 linear discriminant functions for carrier detection in haemophilia A has indicated that the best and simplest is y = 0.11668X1 (VIII:C)--0.06042X2 (VIIIR:Ag), (cut-off point y = 2.03742). It identified 94.6% of carriers without a single misclassification in the normal group, and the overall identification rate was 97.1%. Of 29 daughters of definite carriers who had no haemophilic sons, 13, or 44.8%, could be identified as carriers. It was found that VIII:RC was not as good as VIIIR:Ag for carrier detection; however, it may be concluded from this study that VIIIR:RC can be used as a supplement, if not a substitute, for VIII:Ag in the carrier detection of haemophilia A.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antigens / analysis
  • Child
  • Child, Preschool
  • Factor VIII / analysis
  • Factor VIII / immunology
  • Factor VIII / metabolism
  • Female
  • Genetic Carrier Screening*
  • Hemophilia A / blood
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Middle Aged
  • von Willebrand Factor / analysis

Substances

  • Antigens
  • von Willebrand Factor
  • Factor VIII