The significance of published polymorphisms in 14 cases of mild factor VII deficiency

Blood Coagul Fibrinolysis. 2005 Mar;16(2):91-5. doi: 10.1097/01.mbc.0000161561.51517.31.

Abstract

Factor VII (FVII) plays a critical role in the initiation of blood coagulation, and patients with dysfunctional or reduced levels of this protein are susceptible to mucosal bleeding. There is poor correlation between the clinical presentation and the phenotypic data; and in cases of a mild bleeding tendency, mild to moderate reductions in both FVII antigen and activity may be overlooked. The prevalence of FVII deficiency may therefore be underestimated. Polymorphic differences throughout the FVII gene are associated with variations in plasma FVII antigen and activity levels. This study highlights the significance of mild FVII deficiency, and examines the importance of seven previously published polymorphisms in such patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Factor VII / genetics*
  • Factor VII Deficiency / genetics*
  • Factor VII Deficiency / physiopathology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Point Mutation*
  • Polymorphism, Genetic*

Substances

  • Factor VII