Haemophilia A

This article is about the bleeding disorder with factor VIII deficiency. For the disorder with factor IX deficiency, see haemophilia B.

Haemophilia A
Other namesHemophilia A
Protein structure of coagulation factor VIII, of which its deficiency is the cause of haemophilia A.
SpecialtyHaematology
SymptomsProlonged bleeding from common injuries[1]
CausesFactor VIII deficiency[2]
Diagnostic methodBleeding time,[2] coagulation screen, genetic testing
PreventionHepatitis B vaccine should be considered[2]
TreatmentFactor VIII, factor VIII inhibitors, emicizumab

Haemophilia A (or hemophilia A) is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility to bleeding, both internally and externally. This condition occurs almost exclusively in males born to carrier mothers due to X-linked recessive inheritance. Nevertheless, rare isolated cases do emerge from de novo (spontaneous) mutations.[2][3][4]

The medical management of individuals with hemophilia A frequently entails the administration of factor VIII medication through slow intravenous injection. This intervention aims to address and preempt additional bleeding episodes in affected individuals.

  1. ^ Cite error: The named reference gen was invoked but never defined (see the help page).
  2. ^ a b c d "Hemophilia A: MedlinePlus Medical Encyclopedia". www.nlm.nih.gov. Retrieved 24 June 2016.
  3. ^ "Haemophilia A (Factor VIII Deficiency) information | Patient". Patient. Retrieved 24 June 2016.
  4. ^ World Health Organization (2009). Stuart MC, Kouimtzi M, Hill SR (eds.). WHO Model Formulary 2008. World Health Organization. pp. 259–60. hdl:10665/44053. ISBN 9789241547659.