Haemophilia

Question 1

what is haemophilia

Answer 1

an x linked hereditary disorder in which prolonged bleeding recurs episodically at one or a few sites each occasion

Question 2

whihc factor deficiency is haemophilia A

Answer 2

fcator VII

five times as common as type b

Question 3

which factor deficiency is haemophilia b

Answer 3

Factor IX

Question 4

investigations for haemophilia

Answer 4

• Isolated prolonged APTT
  
  • Coagulation factor assays
    Genetic testing

Question 5

clinical presentation in severe haemophilia

Answer 5

○ Recurrent haemarthroses
○ Recurrent soft tissue bleeds
§ Bruising in toddlers

Prolonged bleeding after dental extractions, surgery, and invasive procedures

Question 6

clinical presentation of mild haemophilia

Answer 6

usually associated with bleeding only after injury or surgery - diagnosis in this group can often be delayed until quite late in life

Question 7

management of acute bleeding / excessive bleeding in surgery

Answer 7

○ Infusions of the affected factor (VIII or IX)
○ Desmopressin to stimulate the release of von Willebrand Factor
Antifibrinolytics such as tranexamic acid

Question 8

complication of IV infusions of affected clotting factor

Answer 8

formation of antibodies against the clotting factor resulting in the treatment becoming ineffective

Question 9

is there abnormality of primary haemostasis in haemophilia

Answer 9

no

Question 10

what is the bleeding most commonly into

Answer 10

joints

Question 11

what does the severity depend on

Answer 11

depending on factor VIII/IX level involved