14. Molecular Studies

  • Why is factor X deficiency so rare? Central role of factor X one reason
  • Dewerchin (2000): FX -/- mice died in utero
  • Congenital deficiencies are often missense, rare nonsense mutations
  • Large heterozygous deletions have also been reported

Factor X Assays

  • Functional assays
    - Prothrombin time (PT) as screen and for factor X activity
    - Partial thromboplastin time (PTT)
    - Russell viper venom test (RVVT)
    - Chromogenic assays for generation of Xa
  • Immunologic assays (ELISA)