Haemophilia
Definition
Haemophilia A - Factor VIII deficiency, X-linked recessive (more common)
Haemophilia B - Factor IX deficiency, X linked recessive
Clinical Features
5Hs:
Investigations
Treatment
A:
B
Source
Toronto Notes 2012
Haemophilia A - Factor VIII deficiency, X-linked recessive (more common)
Haemophilia B - Factor IX deficiency, X linked recessive
Clinical Features
5Hs:
- Haemarthroses
- Haematomas
- Haematochezia
- Haematuria
- Head haemorrhage
Investigations
- ↑ aPTT, N INR (PT)
- ↓ Factor VIII ( <40% of normal)
- vWF usually N or ↑
Treatment
A:
- Desmopressin (DDAVPe) in mild haemophilia A
- Recombinant Factor VIII concentrate for prophylaxis (if worse)
B
- Recombinant Factor IX concentrate, anti-fibrinolytic agents
Source
Toronto Notes 2012