Haemophilia

Headline
Etiology deficiency of Factor VIII (A) or IX (B)
X-linked recessive inheritance
Epidemiology
Clinical presentation haemarthrosis, mucocutaneous bleeding
Pathogenesis
Diagnostic investigations Clotting screen: APTT prolonged; PT normal
FBC normal
Management Prophylaxis - aim to prevent bleeding e.g. into joints
- Emicizumab
Bleeding into muscle compartments can lead to compartment syndrome

the bleeding haemophiliac

  • Replace the missing factor
  • Antifibrinolytic agent = tranexamic acid