Haemophilia

Question 1

What is the different between haemophilia A and B?

Answer 1

Haemophilia A:
-deficiency in factor VIII
I.e. A= 8

Haemophilia B:
-deficiency in factor IX
I.e. B= 9 “be-nine”

Question 2

Why does haemophilia almost exclusively affect males?

Answer 2

Both haemophilia A and B are X LINKED RECESSIVE meaning that all X chromosomes must carry the abnormal gene in order for it to be expressed in the phenotype

Males would only require 1 X chromosome

For females: they would need an affected father and a mother who is a carrier or is affected (i.e. V RARE)

Question 3

When do haemophilias classically present?

What are signs of haemophilia?

Answer 3

Present during childhood

Severe bleeding disorder meaning they will present with

• haemoathrosis= spontaneous bleeding into joint
• ICH
• haematomas
• cord bleeding in neonates
• bleeding of gums
• GI bleeds
• haematuria -> bleeds in urinary tract
• excessive bleeding following procedures

Question 4

How would you diagnose haemophilia?

Answer 4

Used bleeding scores to assess risk of bleeding
Coagulation factor assays to look for deficiency in factor VIII and IX
Genetic testing -> esp when family hx

Question 5

How it haemophilia managed?

What can occur as complication of treatment?

Answer 5

IV replacement of clotting factors
(Prophylactic or in response to bleeding)

Complication:
-antibodies can form to clotting factors leading to the treatment no longer being affective

Question 6

How would acute episodes of bleeding during surgery be managed?

Answer 6

IV infusion of factors

Desmopressin
-stimulates the release of VWF

Antifibrinolytics-> TXA