Rare Bleeding Disorders

Research output: Chapter in Book/Report/Conference proceedingChapter

Original languageEnglish
Title of host publicationPostgraduate Haematology: Sixth Edition
PublisherWiley-Blackwell
Pages813-838
Number of pages26
ISBN (Print)9781405191807
DOIs
Publication statusPublished - Nov 16 2010

Keywords

  • F5F8D, and mutations -in LMAN1 or MCFD2 proteins
  • Factor V deficiency -FV, double role in coagulation process
  • Factor X deficiency -FX glycoprotein, pivotal role in coagulation cascade
  • Genetic variants -identified along prothrombin gene
  • Knockout mouse models -coagulation factors and vitamin K dependent proteins
  • Patients with FXIII-A deficiency -bleeding tendency, life-threatening symptoms as umbilical-cord and CNS bleeding
  • Prothrombin deficiency -rarest inherited coagulation disorder
  • Rare bleeding disorders
  • Rare bleeding disorders (RBDs), inherited deficiencies -coagulation factors as fibrinogen, factor (F) II, FV, combined FV and FVIII
  • Vitamin K-dependent coagulation factors deficiency (VKCFD)

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Peyvandi, F., & Menegatti, M. (2010). Rare Bleeding Disorders. In Postgraduate Haematology: Sixth Edition (pp. 813-838). Wiley-Blackwell. https://doi.org/10.1002/9781444323160.ch42