Haemophilia and treatment

Question 1

Outline the possible treatments in haemophilia

Answer 1

• Factor replacement therapy
• Local measures like tranexamic acid (TA).
  TA binds to plasminogen which is a fibrinolytic enzyme. There is therefore less fibrinolysis and prolonged haemostasis.
• DDAVP
  DDAVP is a vasopressin analogue which acts on V2 receptors of endothelial cells. FVIII are made and stored in Weibel-Palade bodies of EC. So DDAVP stimulates EC production and thus more FVIII production and storage. This makes it more useful in mild or moderate haemophilia as opposed to severe, where there is < or = 1% FVIII

Question 2

How can tranexamic acid be administered?

Answer 2

IV, oral, mouthwash

Question 3

Explain the mode of inheritance of haemophilia

Answer 3

X-linked recessive
So women who are carriers:
- half of sons would be affected
- half of daughters carriers
Men who are affected:
- all daughters would be heterozygotes
- no sons would have it