Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation

Haemophilia. 2007 Mar;13(2):206-8. doi: 10.1111/j.1365-2516.2006.01422.x.


Certain mutations in mild haemophilia A have been associated with a greater risk of inhibitor development, especially when associated with intense treatment. We present a patient with both mild haemophilia A and Arg531Cys mutation, which developed lowtitre inhibitors and was not seen to be related to the intense substitute treatment. The inhibitor has a greater effect on the exogenous factor VIII, permiting an adequate response to treatment with desmopressin. A discrepancy exists in the factor VIII activity in this our patient and in the haemophiliacs of another two families with the same mutation when determination is performed with one-stage or chromogenic method.

Publication types

  • Case Reports

MeSH terms

  • Antibodies / metabolism*
  • Antibody Formation / immunology
  • Blood Coagulation Factor Inhibitors / immunology
  • Chromogenic Compounds
  • Clinical Laboratory Techniques / standards
  • Factor VIII / immunology*
  • Hemophilia A / drug therapy
  • Hemophilia A / immunology*
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Reference Standards


  • Antibodies
  • Blood Coagulation Factor Inhibitors
  • Chromogenic Compounds
  • Factor VIII