Haematology >
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

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