Haemophilia

Question 1

How is haemophilia passed on?

Answer 1

X linked recessive

Question 2

What is haemophilia?

Answer 2

deficiency of coagulation factor VIII (A) or IX (B)

Question 3

What are RF of haemophilia?

Answer 3

1. FHx haemophilia

2. Male sex

Question 4

What are the symptoms and signs of haemophilia?

Answer 4

1. History of recurrent or severe bleeding
2. Haematoma: painful bleeding into muscles
3. Prolonged bleeding following hell prick or circumcision
4. Hemarthrosis: bleeding into joints-swollen and painful
5. Excessive bursing and haematuria

Question 5

What are possible differential diagnosis of haemopilia?

Answer 5

1. VWD
2. Platelet dysfunction
3. Deficiency of other coagulation factors
4. Ehlers-Danlos syndrome
5. Scurvy
6. Fabry’s disease
7. Child abuse
8. Disseminated intravascular coagulation

Question 6

What investigations are used in haemophilia?

Answer 6

1. aPTT
2. Plasma factor VIII and IX assay:
3. Mixing study
4. FBC
5. PT
6. Plasma VW factor assay
7. Plasma factor V, VII assay
8. Plasma factor XI, XII assay
9. Closure time/ bleeding time and platelet aggregation student
10. AST and ALT

Question 7

What is the aPTT like in haemophilia?

Answer 7

prolonged (not if mild)

Question 8

What is PT like in haemophilia?

Answer 8

normal

Question 9

What would a Plasma factor VIII and IX assay be like in haemophilia?

Answer 9

decreased or absent

Question 10

What would a mixing study show in haemophilia?

Answer 10

aPTT corrected

Question 11

What would FBC show in haemophilia?

Answer 11

normal maybe low Hb

Question 12

What is management of haemophilia?

Answer 12

1. Avoid NSAIDs and IM injections
2. Desmopressin
3. Factor concentrate

Question 13

What are complications of haemophilia?

Answer 13

1. Compartment syndrome
2. Allergic reaction to infused product
3. Joint and/or muscular damage
4. Bleeding or life-threatening haemorrhage

Question 14

What test is used to confirm diagnosis of haemophilia?

Answer 14

factor assay