Molecular defects in coagulation factor VIII and their impact on factor VIII function

E. L. Saenko*, N. Ananyeva, D. Kouiavskaia, H. Schwinn, D. Josic, M. Shima, C. A.E. Hauser, S. Pipe

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

8 Scopus citations

Abstract

Molecular defects in Factor VIII (FVIII), such as haemophilia A-related mutations or denaturative conformational changes, may affect the stability of FVIII as well as its interactions with physiological activators, von Willebrand Factor, phospholipid, or conformationally sensitive antibodies. We summarize the contemporary assays which allow identification of impaired functional interactions of FVIII that cause a reduction or loss of its cofactor activity and/or increased immunogenicity. These assays can potentially be used for detection of molecular defects in FVIII and elucidation of the function impaired by these defects.

Original languageEnglish (US)
Pages (from-to)89-96
Number of pages8
JournalVox Sanguinis
Volume83
Issue number2
DOIs
StatePublished - Aug 1 2002

Keywords

  • Conformational changes
  • Factor VIII
  • Haemophilia A
  • Mutations
  • Phospholipid binding
  • Surface plasmon resonance

ASJC Scopus subject areas

  • Hematology

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