Haemophilia

“A medical condition whereby the ability of the blood to clot is impaired”

• Haemophilia A: deficiency in factor VIII
• Haemophilia B: deficiency in factor IX

Risk Factors

• Family history
• Male

Aetiology

• X-linked recessive disorder

Pathophysiology

1. A decrease in presence of clotting factors (VIII or IX)
2. Reduction in the intrinsic pathway of the coagulation cascade
3. Reduced fibrin production
4. Inability to form a clot
5. Excessive bleeding from an injury

Clinical Presentation

• Easy bruising (ecchymosis)
• Haematomas
• Prolonged bleeding after a cut or surgery
• Oozing after tooth extractions
• Gastrointestinal bleeding
• Haematuria
• Severe nosebleeds and bleeding into joint spaces (hemarthrosis)

Investigations

• Platelets (levels normal)
• Prothrombin time (levels normal)
• Partial thromboplastic time (prolonged)
• Genetic testing
• Coagulation factor assays (looking at factors VIII and IX specifically)

Management

• Lifestyle changes (avoid contact sports, avoid medications that promote bleeding – aspirin, practice good dental hygiene)
• Infusion of clotting factors (VIII or IX given prophylactically or in response to bleeding)

Complications

• Intracranial bleeding leading to a stroke or raised ICP