Haemophilia Flashcards
What type of condition is Haemophilia?
X-linked recessive disorder of coagulation
What type of inheritance does haemophilia have?
X-linked recessive
How many types of haemophilia are there?
2
Haemophilia A
Haemophilia B
Which type if haemophilia is more common?
Haemophilia A
What is haemophilia A due to?
Deficiency in factor 8
What is Haemophilia B due to?
Deficiency of factor 9
What is another name for haemophilia B?
Christmas disease
What are the main features of haemophilia?
- Hemarthrosis (bleeding into the joint)
- Muscle haematomas
- Prolonged bleeding after surgery or trauma
- CNS bleeding
When does haemophilia tend to present?
In early life
What is the main presentation of haemophilia?
Severe bleeding into soft tissue, joints and muscle
How is haemophilia A and B diagnosed?
Assay
How would happen to the APTT in severe haemophilia?
It would be prolonged
What would you do an assay for?
Specific assay for factor 8 and Factor 9
What is the management of haemophilia?
Recombinant coagulation factor 8/9 replacement
What are clinical complications for haemophilia?
- Synovitis (inflammation of membrane surrounding joint)
- Chronic haemophilic arthropathy
- Neurovascular compression- compartment syndromes
- Viral infection- HIV, Hep B and Hep C (transmitted by blood products)
What happens in 10-15% of patients with haemophilia A?
They develop antibodies to factor 8 treatment
What does APTT stand for?
Activated partial thromboplastin time
What does the APTT tell you?
The functionality of the pathways involved in the clotting cascade
The period required for clot formation
