Condition- Haemophilia

Question 1

Describe the inheritance of haemophilia

Answer 1

X-linked recessvie

Question 2

Which gender tends to be affected by haemophilias?

Answer 2

MALES

Question 3

Which females can be affected by haemophilias

Answer 3

• If mother is carrier and father is affected
• Turner’s syndrome: XO

Question 4

What are the three differencee haemophilias and which factor is deficient in each of them

Answer 4

• Haemophilia A: Factor 8
• Haemophilia B: Factor 9
• Haemophilia C: Factor 11 (very rare)

Question 5

What is the most common type of Haemophilia?

Answer 5

Haemophilia A (factor 8 deficiency)

Question 6

Which arm of the coagulation cascade is affected in Haemophilas?

Answer 6

The intrinsic pathway

Question 7

When do patients with haemophilia usually present?

Answer 7

• As children
• Or after surgery/ trauma with prolonged bleeding

Question 8

Which symptoms of haemophilia can you see in this picture? State complications of each

Answer 8

• Haematoma (bleeding into muscle): can cause increase in pressure => nerve palsies and compartment syndrome
• Haematoma (bleeding into joints): Can lead to joint deformity

Question 9

What would you see in the bloods of someone with Haemophilia?

• platelets?
• Clotting screen?

Answer 9

• Platelets will be normal
• Clotting: APTT will be prolonged, PT normal
• May do coagulation assay and see Factor deficiency