Haemophilia

Question 1

Define/causes of Haemophilia?

Answer 1

Haemophilia A and B are both X-linked recessive inherited bleeding disorders.

Haemophilia A = deficiencies in clotting factors VIII 8

Haemophilia B = deficiencies in clotting factors IX 9

Question 2

Presentation of Haemophilia?

Answer 2

Male

presents early in life with spontaneous deep and severe bleeding into soft tissues, joint and muscles

Boys often present with excessive bleeding following trauma or surgical intervention (e.g. tonsillectomy)

Cerebral haemorrhage was a major cause of mortality in severe haemophilia

Question 3

Diagnosis/IVx of Haemophilia?

Answer 3

Diagnosis is with a factor VIII/IX assay

Blood tests show:
- Clotting profile - APTT is elevated
- vWF antigen is normal in haemophilia A
- Defective platelet function

Question 4

Management of Haemophilia?

Answer 4

Haemophilia A + minor bleeds = desmopressin

Major bleeds = recombinant factor VIII or IX

Antifibrinolytics -for bleeding wounds, avoid in muscle haematomas, haemarthrosis and urinary bleeding