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Pathology
Haemophilia A: low levels of factor VIII
Haemophilia B: low levels of factor IX
Aetiology
X linked genetic defect in the responsible genes (male only disease, females are carriers)
Signs
Haemarthrosis, spontaneous bleeds into muscles and soft tissue, haematuria, GI bleed.
Symptoms
Bleeding and bruising
Investigations
Clotting screen: Prolonged APTT, normal PT, normal vWF,
Decreased Factor VIII (Haemophilia A)
Decreased Factor IX (Haemophilia B)
Treatment
Medical: Deficient Factor replacement and Desmopressin increases factor VIII
Prognosis
Good with prophylactic and replacement recombinant factor therapy.
Fatal hemorrhage in the absence of factor replacement .
Chronic arthropathies, contraction of Hepatitis A, B, C, HIV, Risk of variant CJD
Key Facts
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Key Images
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Key References
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