Deficient Clotting Factor |
Factor VIII deficiency |
Factor IX deficiency (Christmas disease) |
Factor XI deficiency |
Inheritance Pattern |
X-linked recessive |
X-linked recessive |
Autosomal recessive (can affect both males and females) |
Incidence |
More common (about 1 in 5,000 male births) |
Less common (about 1 in 30,000 male births) |
Very rare |
Symptoms |
- Spontaneous bleeding, especially into joints (hemarthrosis) and muscles
- Prolonged bleeding after injury or surgery
- Bruising
|
- Similar to Haemophilia A: spontaneous bleeding, joint bleeds, bruising
|
- Less severe spontaneous bleeding
- Prolonged bleeding after surgery or trauma
|
Diagnosis |
- Blood tests: Prolonged activated partial thromboplastin time (aPTT)
- Factor VIII assay: Low factor VIII levels confirm the diagnosis
- Family history of haemophilia
|
- Blood tests: Prolonged aPTT
- Factor IX assay: Low factor IX levels confirm the diagnosis
- Family history of haemophilia
|
- Blood tests: Prolonged aPTT
- Factor XI assay: Low factor XI levels confirm the diagnosis
|
Management |
- Replacement therapy: Regular infusions of recombinant or plasma-derived factor VIII
- Prophylaxis: Preventative treatment for severe cases
- Desmopressin (DDAVP) for mild cases (stimulates release of factor VIII)
- Antifibrinolytic agents (e.g., tranexamic acid) for minor procedures
|
- Replacement therapy: Regular infusions of factor IX concentrates
- Prophylaxis: Preventative treatment for severe cases
- Antifibrinolytic agents for bleeding control
|
- Factor XI replacement for surgery or major trauma
- Fresh frozen plasma (FFP) may be used in some cases
- Antifibrinolytic agents for minor bleeding
|
Complications |
- Development of inhibitors (antibodies) against factor VIII
- Joint damage from repeated bleeding episodes
- Risk of infections from blood products (rare with modern treatments)
|
- Development of inhibitors against factor IX (less common than in haemophilia A)
- Similar joint damage and risk of infections
|
- Less severe bleeding complications
- Prolonged bleeding in surgical settings
|