- Inherited disorders of the coagulation cascade
- Haemophilia A – deficiency of factor VIII (MC)
- Haemophilia B – deficiency of factor IX
- X-linked recessive inheritance – women are carriers, men develop the disease
Clinical features
- CF of haemophilia A + B are identical
- Hemarthroses, muscle hematomas, soft tissue bleeding
- Delayed but prolonged bleeding from cuts
- Intracranial bleeding – even from minor head trauma
- Severity of bleeding depends on the level of the deficient factor
- Most pts have a family history of pathologic bleeding in males from the maternal side
Diagnosis
- Prolonged aPTT (intrinsic system)
- Normal PT (extrinsic system)
- A + B can only be distinguished by a clotting factor assay (not by clinical features)
Treatment
- Important to determine which factor is deficient
- 4 phase treatment regime
- For severe bleeding/major surgery factor levels should be 100% (minimum 50%)
- Desmopressin acetate can be used as an adjuvant in mild Hemophilia A
- Induces release of vWF and VIII from endothelial cells to temporarily raise level of VIII
- Tranexamic acid – especially for dental procedures
