Rare bleeding disorders

Flora Peyvandi, Paula Hb Bolton-Maggs, Angelika Batorova, Philippe De Moerloose

Research output: Contribution to journalArticlepeer-review

Abstract

Rare bleeding disorders (RBDs) include the inherited deficiencies of fibrinogen, factor (F)II, FV, FV+FVIII, FVII, FX, FXI and FXIII. There have been remarkable advances in understanding the molecular profiles that lead to each type of coagulation factor deficiency. However, as a consequence of their rarity, clinical data regarding the characteristics of bleeding symptoms and their management remain limited. The clinical manifestations in different RBDs are heterogeneous, and the residual plasma coagulant factor level does not always predict bleeding tendency. In this review, we describe the general features and recent advances in understanding three such deficiencies: FXI, FVII and fibrinogen deficiencies.

Original languageEnglish
Pages (from-to)148-153
Number of pages6
JournalHaemophilia
Volume18
Issue numberSUPPL.4
DOIs
Publication statusPublished - Jul 2012

Keywords

  • Factor VII
  • Factor XI
  • Fibrinogen
  • Haemostasis

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)

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