Haemophilia

Question 1

Define haemophilia

Answer 1

X-linked recessive inherited bleeding disorder due to
clotting factor deficiencies

Haemophilia A – Factor VIII deficiency

Haemophilia B (Christmas disease) – Factor IX
deficiency

Question 2

What are the causes/risk factors of haemophilia?

Answer 2

Mutations in the factor VIII or IX genes on chromosome
10 -> factor VIII or IX deficiency -> defective intrinsic
pathway -> reduced thrombin formation -> delayed clot
formation -> excessive bleeding

May also be acquired (autoimmune) but this is rare

Risk factors
• Family history
• Male

Question 3

What are the symptoms of haemophilia?

Answer 3

• Spontaneous bleeding
• Haemarthrosis – swollen painful joints with
decreased ROM
• Painful bleeding into muscles
• Excessive bleeding after trauma/surgery
• Recurrent epistaxis and gum bleeding
• Easy bruising
• Haematuria
• Fatigue
• GI bleeding e.g. haematemesis, melaena

Question 4

What are the signs of haemophilia?

Answer 4

• Haemarthrosis – erythema, warmth, tenderness
• Joint deformity
• Multiple bruises

Question 5

What investigations are carried out for haemophilia?

Answer 5

• coagulation factor assays (# factor VIII, IX or XI depending on condition )

Other investigations according to complications (e.g. arthroscopy).
• FBC - usually normal; anaemia if bleeding has been severe or prolonged.
- Performed to rule out thrombocytopenia as a cause of bleeding.
• APTT - prolonged. (Intrinsic and Common Pathways)
• PT - normal; performed to evaluate the extrinsic and common pathways of coagulation. (Extrinsic and Common Pathways).
• Coagulation Factor Assay:
- Factor VIII: Haemophilia A
- Factor IX: Haemophilia B
- Factor XI: Haemophilia C
• Platelet Aggregation Studies, Bleeding Time and von Willibrand studies to eliminate disorders of primary haemostasis.
• LFTs - to eliminate liver disease as the cause of coagulopathy.
• Investigate Complications - arthroscopy, CT/ MRI Head and Neck, CT Abdomen, Abdominal USS