Haemophilia A

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
CausesFactor VIII deficiency
Diagnostic methodBleeding time, coagulation screen, genetic testing
PreventionHepatitis B vaccine should be considered
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.

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.