Haemophilia Flashcards
What is haemophilia A caused by?
Factor VIII deficiency
What is haemophilia B caused by?
Factor IX deficiency
What is the inheritance of haemophilia?
X-linked recessive
What is the presentation of haemophilia?
Spontaneous bleeding:
- Intracranial haemorrhage
- Haematoma
- Cord bleeding
- Bleeding into joints
- Epistaxis
- Oral mucosa bleeding
- GI tract bleeding
- Haematuria
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What are the differentials of haemophilia?
Von willebrand disease
Factor deficiencies
Platlet disorders
Trauma
Liver disease
Haematological malignancies
Vasculitis
What is the definitive investigation for diagnosis of haemophilia?
Factor VIII/IX assay
What is the first line investigation for haemophilia?
FBC
Clotting screen
What clotting screen results would be seen in a child with haemophilia?
Prolonged APTT
Normal PT, bleeding time and thrombin time
What is the management of minor bleeds in haemophilia A?
Desmopressin
What is the management of major bleeds in haemophilia?
IV infusion of the affected clotting factors
