Haemophillia

Question 1

What is there a deficiency for in haemophilia A?

Answer 1

Factor VIII

Question 2

What is there a deficiency for in haemophilia b?

Answer 2

Factor IX

Question 3

What type of genetic condition is haemophilia? E.g. dominant

Answer 3

X linked recessive

Question 4

What is haemophilia?

Answer 4

• Both haemophilia A and B are severe bleeding disorders.
• Patients can bleed excessively in response to minor trauma and are at risk of spontaneous bleeding without any trauma.

Question 5

When does haemophilia usually present? With what symptoms? (3)

Answer 5

• Most cases present in neonates or early childhood.

It can present with intracranial haemorrhage, haematomas and cord bleeding in neonates.

Question 6

What is bleeding into joints called?

Answer 6

Haemarthrosis

Question 7

What can bleeding into joints cause in haemophilia?

Answer 7

Joint damage or deformity

Question 8

What can bleeding into muscles cause?

Answer 8

Compartment syndrome

Question 9

What tests are done in haemophilia? (3)

Answer 9

• Bleeding scores
• Coagulation factor assays
• Genetic testing.

Question 10

What is the results of blood tests in haemophilia?

Answer 10

• prolonged APTT

Question 11

What is the management of haemophilia? What are the complications of this?

Answer 11

• The affected clotting factors (VIII or IX) can be given by intravenous infusion, either regularly or in response to bleeding.
A complication of this treatment is the formation of antibodies (called inhibitors) against the treatment, resulting in it becoming ineffective