Haemophilia

Question 1

what inheritance pattern does haemophilia follow

Answer 1

X-linked recessive

Question 2

what is haemophilia

Answer 2

bleeding disorder, x-linked recessive, where there is a deficiency in a clotting factor

Question 3

what are the three subtypes of haemophilia

Answer 3

Haemophilia A- most common; deficiency in Clotting factor 8

Haemophilia B; deficiency in clotting factor 9

Haemophilia C- RARE; deficiency in clotting factor 11

Question 4

aetiology/ causes of haemophilia

Answer 4

haemophilia A and B have an X-linked recessive inheritance pattern.
more commonly seen in males

30% of cases are a result of a new mutation

Question 5

presenting symptoms and signs

Answer 5

history of recurrent/ severe bleeding,

bleeding into muscles,

prolonged bleeding due to minor issues

intracranial bleeding

excessive bruising,

fatigue,

menorrhagia,

Question 6

what investigations to do for haemophilia

Answer 6

clotting screen

coagulation factor assays

FBC

other investigations depending on what presentations the patient has

Question 7

why may an FBC be done

Answer 7

to rule out thrombocytopenia as a cause of bleeding

Question 8

APTT and PT results in haemophilia

Answer 8

APTT will be prolonged

PT will be normal

Question 9

treatment of haemophilia

Answer 9

factor concentrate and antifibrinolytic agent

Question 10

prognosis

Answer 10

with the use of prophylaxis (intravenous factor replacement given for at least 45 weeks/year in anticipation of, and to prevent, bleeding) there is good prognosis