The fibrinogenopathies

Ann Clin Lab Sci. 1978 May-Jun;8(3):234-8.

Abstract

This paper reviews the reported clinical, functional and biochemical abnormalities associated with abnormal fibrinogens. It appears from studies on fibrinogen Detroit that a single amino acid substitution in a critical part of the molecule can lead to major functional abnormalities and clinical consequences of either bleeding or thrombosis. Functional defects observed include: abnormal release of fibrinopeptide A or B or both after incubation with thrombin, abnormal polymerization and abnormal clot stabilization.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Afibrinogenemia / genetics
  • Afibrinogenemia / physiopathology*
  • Amino Acid Sequence
  • Blood Coagulation
  • Child
  • Child, Preschool
  • Female
  • Fibrinogen / metabolism
  • Fibrinopeptide A / metabolism
  • Fibrinopeptide B / metabolism
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Pedigree
  • Structure-Activity Relationship

Substances

  • Fibrinopeptide A
  • Fibrinopeptide B
  • Fibrinogen