Hunting for the mutation in inherited thrombophilia

Blood Coagul Fibrinolysis. 2004 Mar;15(2):125-7. doi: 10.1097/00001721-200403000-00002.

Abstract

Mutation detection in inherited thrombophilia remains largely confined to the research laboratory. However, there are specific situations when investigating the genetic defect causing thrombophilia can provide additional useful clinical information. This review discusses the value of genetic analysis in the common inherited thrombophilias.

Publication types

  • Review

MeSH terms

  • Antithrombins / deficiency
  • Antithrombins / genetics
  • Fibrin / genetics
  • Genetic Heterogeneity
  • Genotype
  • Humans
  • Incidence
  • Mutation
  • Protein C / genetics
  • Protein C Deficiency / epidemiology
  • Protein C Deficiency / genetics
  • Protein S / genetics
  • Protein S Deficiency / epidemiology
  • Protein S Deficiency / genetics
  • Pseudogenes
  • Thrombophilia / epidemiology
  • Thrombophilia / genetics*

Substances

  • Antithrombins
  • Protein C
  • Protein S
  • Fibrin