[Haemophilia]

Ned Tijdschr Geneeskd. 2014:158:A7357.
[Article in Dutch]

Abstract

Haemophilia is an X-linked inherited clotting disorder with a prevalence of 1 per 5000 men. A deficiency of clotting factor VIII (FVIII; haemophilia A) or IX (FIX; haemophilia B) causes haemophilia patients to suffer from spontaneous bleeding and excessive blood-loss following surgery or trauma. Prophylactic administration of a factor VIII- or factor IX-concentrate is the standard treatment for children with severe haemophilia. Women who are carriers of the F8 or F9 gene mutation can have a lowered plasma concentration of factor VIII or IX, and thus suffer from a mild form of haemophilia. Drugs that have a negative influence on blood clotting, such as NSAIDs, can lead to life-threatening bleeding in haemophilia patients. One of the main complications of haemophilia treatment is the formation of inhibiting antibodies that inactivate FVIII or FIX. Haemophilia patients should be treated by a multidisciplinary team in a hospital with a haemophilia treatment centre.

Publication types

  • Review

MeSH terms

  • Blood Coagulation Factors
  • Factor IX / genetics
  • Factor IX / metabolism
  • Factor VIII / genetics
  • Factor VIII / metabolism
  • Hemophilia A / blood
  • Hemophilia A / epidemiology
  • Hemophilia A / genetics*
  • Hemophilia B / blood
  • Hemophilia B / epidemiology
  • Hemophilia B / genetics*
  • Hemostasis
  • Heterozygote
  • Humans
  • Mutation

Substances

  • Blood Coagulation Factors
  • prothrombin complex concentrates
  • Factor VIII
  • Factor IX