6. Haemophilia Flashcards
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.
What is the equation to know how much clotting factor to infuse for those with haemophilia A?
(Rise x Weight) / 2
Rise is simply how much more factor VIII you need in order to get to the desired level
Weight is in kg
What level of factor VIII should you aim for when treating a haemophilia A patient?
It depends on the clinical situation.
For a joint bleed, you need to go up to 50 IU/dL.
For those with brain haemorrhages, you need to go up to 100 IU/dL
How many injections of factor VIII do you need to give someone a day for haemophilia A? Why?
Factor VIII has a half life of 8 hours, so it is given up to 3 times a day.
Other than with a factor VIII concentrate, how else can you manage haemophilia A?
Desmopressin (DDAVP)
They need to have a trial of it first to make sure they respond to it correctly.
How can some people react to having dessmopressin?
A marked drop in blood pressure
How do you treat haemophilia B?
Give an infusion of factor IX
What is the equation used to calculate how much clotting factor a person with haemophilia B requires?
rise x weight
How many injections of factor IX do you need to give someone a day for haemophilia B? Why?
Only 1 per day, as it has a long half life
What treatment do you give to someone with either haemophilia A or B?
Tranexamic acid
Why would you give someone with haemophilia tranexamic acid?
It is an anti-fibrinolytic agent, meaning it slows down the plasmin system, allowing any clot that has formed to stay there longer than it normally would.
What is ‘demand’ treatment for heamophilia? Why is it not done anymore?
It involves treating them once they are bleeding.
It is not done as it does not prevent blood getting in the joints, does not prevent morbidity and may not be the cheaper option in the long term
What is the difference between primary and secondary prophylaxis for haemophilia?
Primary prophylaxis - this is started before the age of 3
Secondary prophylaxis - this is when you start treatment after 3 joint bleeds have already occured
What does prophylaxis treatment involve for haemophilia A?
Factor VIII - 3 times per week
What does prophylaxis treatment involve for haemophilia B?
Factor IX - 2 times per week
