Haemophillia A + B

Question 1

Defintion

Answer 1

Severe bleeding disorders
Inherited X linked condition
A: Factor VIII def
B: Factor IX def
Almost exclusive to men

Question 2

Signs and symptoms

Answer 2

Excessive bleeding to minor trauma, risk of spontaneous haemorrhage
Most commonly present in neonate/early childhood:
- IC haemorrhage
- Haematomas
- Cord bleeding
Spontaneous bleeds into joints (haematherosis) + muscles = CHARACTERISTIC
* If untreated can lead to joint deformity *
Abnormal bleeding in:
- gums, GI, urinary tract (haematuria), retroperitoneal space, IC, following procedures

Question 3

Diagnosis

Answer 3

Bleeding scores
Coagulation factor assays
Genetic testing
Prolonged APTT

Question 4

Treatment

Answer 4

IV infusions =
- prophylactic
- in response to bleeding
* complication = body develops antibodies against factor VIII or IX *
During procedures = infusions, desmopressin, anti-fibrinolytic = tranexamic acid