Haemophilia

Question 1

What sort of inheritance is haemophilia?

Answer 1

X-linked recessive

Question 2

Which factor is Haemophilia A and which is B?

Answer 2

Haemophilia A = 8

Haemophilia B = 9

Question 3

What are the features of haemophilia?

Answer 3

• Haemarthroses
• Haematomas
• Prolonged bleeding after surgery or trauma

Question 4

What could you see on a clotting screen?

Answer 4

• Prolonged APTT
• Bleeding time, thrombin time and prothrombin time would be normal.

Question 5

10-15% of patients with haemophilia A develop antibodies to what?

Answer 5

Factor VIII treatment

Question 6

What differentiates Von Willebrand Disease and Haemophilia?

Answer 6

Haemophilia - haematomas and haemarthrosis. X-linked

Von Willebrand - haemoatomas and haemarthrosis are rare. They are more likely to get menorrhagia and epistaxis. Autosomal Dominant.

Both can have prolonged APTT (Von Willebrand less likely) BUT the bleeding time in Von Willebrand’s disease will be prolonged whilst in haemophilia it will be normal.

Question 7

A 4 year old boy is admitted after developing a haemarthrosis of his right knee whilst playing in the garden. The following blood results are obtained:

• Plts 220 (Normal)
• PT 11 secs (Normal)
• APTT 76 sec (Prolonged)
• Factor VIIIc - Normal

What is the most likely diagnosis?

Antithrombin 3 deficiency, Von Willebrand’s disease, Antiphospholipid Syndrome, Haemophilia A or Haemophilia B?

Answer 7

Haemophlia B

• Haemophilia A is Factor 8 - which is normal
• Antithrombin 3 deficiency - frequent PEs and Clots
• Von Willebrand - menorrhagia and epistaxis. Factor 8 normal.
• Antiphospholipid syndrome - frequent Clots.