Haem - Haemophilia

Question 1

What are Haemophilia A and B?

Answer 1

A - Factor VIII deficiency
B - IX deficiency (AKA Christmas disease)

Question 2

How are Haemophilia A and B inherited?

Answer 2

X-linked recessive disease

Primarily affects men, much rarer to affect women

Question 3

What are the features of haemophilia?

Answer 3

Excessive bleeding in response to minor trauma
Risk of spontaneous bleeding

May present with :
- Intracranial haemorrhage
- Haematomas
- Cord bleeding (in neonates)
- Haemarthrosis (bleeding into joint)

Question 4

Where can haemoarthrosis occur?

Answer 4

Ankle
Knee
Elbow

Question 5

What does haemarthrosis lead to?

Answer 5

Joint damage and deformity

Question 6

What does bleeding into muscles cause?

Answer 6

Compartment syndrome

Question 7

What other areas can be affected by bleeding?

Answer 7

Mouth
Epistaxis
GI tract
Urinary tract - haematuria
Surgical wounds

Question 8

How is haemophilia diagnosed?

Answer 8

Bleeding scores
Coagulation factor assays
Genetic testing

Question 9

How are haemophilias managed?

Answer 9

Affected clotting factors given by IV

Either regularly or in response to bleeding

Can form antibodies against treatment causing it to stop working

Question 10

What are antibodies formed in response to clotting factor infusions called?

Answer 10

Inhibitors