Haemophilia

Question 1

What is haemophilia

Answer 1

inherited bleeding disorder in which blood does not clot properly

Question 2

What are the 2 types of haemophilia

Answer 2

Haemophilia A- factor 8 deficiency

Haemophilia B - factor 9 deficiency

Question 3

What is haemophilia A

Answer 3

X-linked recessive coagulation disorder

– affects mostly males

Question 4

What is quick pathophysiology of haemophilia A

Answer 4

reduced expression and circulating volume of factor 8

factor 8 is crucial in intrinsic pathway of formation of thrombin

Question 5

How is haemophilia A characterised

Answer 5

mild > 5% - only bleed after major trauma or surgery

moderate 1-5% - occasional spontaneous bleeding or after minor surgery

severe- <1% - severe spontaneous bleeding , most commonly into joints and haematomas

Question 6

What investigations are required for haemophilia A

Answer 6

coagulation screen
- normal PT , bleeding time (INR )and VWF

• prolonged APTT
• significantly reduced factor 8

Question 7

How do you manage haemophilia A

Answer 7

for acute major bleeds- offer IV plasma derived or recombinant factor 8 inhibitor

for minor bleeds - IV or intranasal desmopressin

offer lifestyle advice - avoid contact sports, NSAIDs and IM injections

Question 8

How does desmopressin work

Answer 8

indirect effect on factor 8
- stored with VWF as complexes in vascular endothelial cells

stimulation of release of VWF by DDAVP will also increase levels of factor 8

Question 9

What is haemophilia B

Answer 9

x-linked recessive disorder
causes deficiency in factor 8

less common than haemophilia A but has almost identical presentations

Question 10

What are key symptoms of haemophilia

Answer 10

haemarthrosis - bleeding into joints ( swollen and painful )

haematoma

Question 11

How do you treat haemophilia B

Answer 11

plasma-derived or recombinant factor 9

desmopressin has no effect