Evaluation of the clotting defect in a factor XII-deficient kindred

Ric Clin Lab. 1985 Jul-Sep;15(3):241-5. doi: 10.1007/BF03029194.

Abstract

A family with factor XII severe congenital deficiency is described. Factor XII activity and factor XII antigen were both undetectable in the propositus plasma; levels of FXII:C and FXII:Ag were intermediate in heterozygotes. Plasma prekallikrein activity was low in the propositus, whereas normal levels of antigen could be found, suggesting a defect of kallikrein activation due to factor XII deficiency.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Coagulation*
  • Child
  • Factor XII / analysis
  • Factor XII Deficiency / blood
  • Factor XII Deficiency / genetics*
  • Female
  • Genetic Carrier Screening
  • Homozygote
  • Humans
  • Kallikreins / blood
  • Male
  • Partial Thromboplastin Time
  • Pedigree

Substances

  • Factor XII
  • Kallikreins