2017 71 Inherited Bleeding Disorders

Question 1

Give a list of inherited bleeding disorders!

Answer 1

1. Haemophilia A & B
2. von Willebrand disease
3. Factor XI deficiency
4. Rare clotting deficiencies: fibrinogen, factors II, V, VII, X, XI, XIII, combined V & VIII
5. Congenital deficiency of vitamin K-dependent factors
6. Fibrinogen disorders
7. Platelet function disorders: Bernard Soulier syndrome, Glanzmann’s thrombasthenia

Question 2

** What is the definition of haemophilia? **

Answer 2

1. X-linked condition
2. A: reduced or absent factor VIII
3. B: reduced or absent factor IX
4. Causing bleeding symptoms

Question 3

** What is the definition of haemophilia? **

Answer 3

1. X-linked condition
2. A: reduced or absent factor VIII
3. B: reduced or absent factor IX
4. Causing bleeding symptoms

Question 4

** How should haemophilia inheritance be assessed? **

Answer 4

1. Family tree to assess likely carrier-ship
2. Genetic testing for likely female carriers

Question 5

** What proportion of neonatal males with severe haemophilia have no previous family history? **

Answer 5

50%

Question 6

** In newborn males with severe haemophilia, what is the chance of the mother being the carrier? **

Answer 6

90%

Question 7

** What are the risks to female carriers of haemophilia? **

Answer 7

1. Low factor VIII or IX levels
2. Increased bleeding with invasive procedures, termination, spontaneous miscarriage, birth