Haemophilia

Question 1

Inheritance pattern

Answer 1

X-linked recessive

Question 2

What is Haemophilia

Answer 2

X-linked recessive bleeding disorder

Question 3

Types of haemophilia

Answer 3

A and B

Question 4

Causes of Haemophilia A

Answer 4

Deficiency of factor VIII

Question 5

Causes of Haemophilia B

Answer 5

Deficiency of factor IX

Question 6

Signs and symptoms of Haemophilia A/B

Answer 6

Depend on disease severity
Bleeding is main feature and is prolonged, resulting in the need for investigations to uncover the cause
Positive family history may tailor diagnosis

Question 7

Investigations of Haemophilia A

Answer 7

Low factor VIII levels (lower this is, the more severe)
Coagulation factor assay
Increased PTT but not PT

Question 8

Conservative treatment of Haemophilia A

Answer 8

Patient and parent education
Genetic counselling and testing
Avoid anticoagulant medication e.g. NSAIDs, Warfarin, Aspirin

Question 9

Medical treatment of Haemophilia A

Answer 9

Mild - desmopressin

Severe - require IV replacement with plasma concentrate factor VIII

Question 10

Complications of Haemophilia A

Answer 10

Patients immune system may start to reject the IV plasma concentrate factor VIII by making inhibitors
Joint destruction by recurrent bleeding

Question 11

Investigations of Haemophilia B

Answer 11

Low factor IX levels (lower is more severe)
Coagulation factor assay
Increased PTT but normal PT

Question 12

Conservative treatment of Haemophilia B

Answer 12

Patient and parent education
Genetic counselling and testing
Avoid anticoagulant medication e.g. NSAIDs, warfarin, aspirin

Question 13

Medical treatment of Haemophilia B

Answer 13

IV infusion of factor IX

Question 14

Complications of Haemophilia B

Answer 14

Joint destruction by recurrent bleeding