Haemophilia

Question 1

Haemophilia A
[…] […] […] inherited bleeding disorder caused by deficiency in clotting factor […] – an integral part of the […] component of the coagulation cascade (measured using the […]).

Answer 1

X-linked recessive inherited bleeding disorder caused by deficiency in clotting factor VIII – an integral part of the intrinsic component of the coagulation cascade (measured using the APTT).

Question 2

Both typically present […] in life with deep and severe […] into […] tissues, […] and muscles.

Answer 2

Both typically present early in life with deep and severe bleeding into soft tissues, joints and muscles.

Question 3

Mx Haemophilia A
Minor bleeds can be managed with […] and major bleeds with recombinant factor […].

Answer 3

desmopressin, VIII

Question 4

Why desmopressin for haemophilia A?

Answer 4

Increases level of factor VIII

Question 5

Haemophilia B
[…] […] […] inherited bleeding disorder caused by deficiency in clotting factor […] – an integral part of the […] component of the coagulation cascade (measured using the […]).

Answer 5

x-linked recessive inherited bleeding disorder caused by deficiency in clotting factor IX – an integral part of the intrinsic component of the coagulation cascade (measured using the APTT).

Question 6

Diagnosis of Haemoph A

Answer 6

Factor VIII assay (if <1%, severe)

Question 7

Diagnosis of Haemoph B

Answer 7

Factor IX assay

Question 8

Mx of Haemoph B

Answer 8

Recombinant factor IX