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
- A decrease in presence of clotting factors (VIII or IX)
- Reduction in the intrinsic pathway of the coagulation cascade
- Reduced fibrin production
- Inability to form a clot
- 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