6. Haemophilia Flashcards
(38 cards)
What is the difference between Haemophilia A and Haemophilia B?
Haemophilia A - Factor VIII deficiency
Haemophilia B - Factor IX deficiency
What condition is otherwise known as Christmas Disease?
Haemophilia B
Clinically, what is the difference between haemophilia A and B?
There is no clinical difference
Which type of people does haemophilia affect and why?
Almost exclusively males as it is an X-linked condition.
As men only have 1 X chromosome, if they get it, then they have haemophilia. Whereas women require both copies to be mutated.
Who can be a carrier for haemophilia?
Only women can be carriers for haemophilia as it is X-linked.
If they have 1 copy, then they are a carrier. If they have 2 copies, then they are a haemophiliac.
For a women to have haemophilia, what must her parents have?
Father - Haemophiliac
Mother - Either carrier, or haemophiliac
What is a feature of severe haemophilia?
Spontaneous bleeding into joints, which if untreated can lead to joint damage and deformity
At what age do haemophiliacs typically present?
Neonates or early childhood
What signs and symptoms do haemophiliacs have?
- Intracranial haemorrhages
- Haematomas
- Cord bleeding in neonates
- Abnormal gum bleeding
- Abnormal GI bleeding
- Haematuria
- Abnormal bleeding following dental or surgical procedures
How is haemophilia diagnosed?
It is diagnosed based on
- Bleeding scores
- Coagulation factor assays
- Genetic Testing
What are the 3 different classifications of haemophilia?
Hint: not A/B
- Severe
- Moderate
- Mild
What is the factor VIII level like in the 3 different severities of haemophilia?
Severe - <1 IU/dL
Moderate - 1 - 5 IU/dL
Mild - >5 IU/dL
What is the bleeding typically caused by in the 3 different severities of haemophilia?
Severe - Spontaneous
Moderate - Slight Injury
Mild - Trauma
What is the bleeding frequency like in the 3 different severities of haemophilia?
Severe - 1-2x per week
Moderate - 1x per month
Mild - Rare
How often is there joint bleeding in the 3 different severities of haemophilia?
Severe - Often in the joints
Moderate - Less often the joints
Mild - Rarely the joints
What is the normal serum range for factor VIII?
50-150 IU/dL
How much does it cost to treat a haemophiliac in the UK for a year?
£100,000
What is the life expectancy for someone with haemophilia?
Same as the rest
Which pain killer should a haemophiliac avoid and why?
Aspirin as it also thins the blood even more
Why should you look after a haemophiliacs veins?
As long-term treatment is via IV, so you need to protect the veins for this
If someone with suspected haemophilia comes into A&E, when should you treat them?
Straight away, do not wait for clinical signs to develop.
If you are unsure that is haemophilia, treat them for it whilst you wait for investigation results.
What is the treatment for haemophilia?
To give an IV infusion of the clotting factor that they are missing
What is the general treatment for a cut?
Hint: there’s a mneumonic
R : Rest
I : Immobilise
C : Cool (the joint or muscle)
E : Elevate (the relevant limb)
For haemophilia A, why is the Factor VIII that is infused recombinant and not from blood products?
In the past, there was a chance that when receiving the infusion therapy, the patient got infected with hepatitis C or HIV.
