Haematology_Haemophilia Flashcards
What is Haemophilia A and B?
Deficiency of Factor 8 and 9 respectively
How common is Haemophilia?
Who does it effect?
1/10,000
X-linked therefore M,
Girls can still get it
What is the presentation of Haemophilia?
Clinically significant bleeding in 1st year of life
Spontaneous haemarthrosis
- Child may feel ‘unusual feeling’ in the joints
- toddler may refuse to weight bear initially –> then swelling, pain & warmth
Investigation for dx of Haemophilia A and B?
APTT increase, PT normal
APTT corrects with additional of normal plasma
Measure Factor VIII and Factor IX
Test for vWF (as severe vWF can mimick haemophilia)
Gene mutation identification in patient and mother (for carrier status)
How to measure severity of Haemophilia?
Mild >5% of Factor VIII/IX
Moderate 1-5% of Factor VIII/IX
Severe <1% of Factor VIII/IX
What are the General management principals for Haemophilia?
No Aspirin
Nil IM injections
Nil contact sports
Dental check ups regularly (as prevention better)
Wear Medic Alert bracelet
Monitor for inhibitors for the injected exogenous factor 8
What is the complications of haemophilia?
Arthropathy
Chronic joint damage
vWF functions
protects Factor VII
for platelet aggregation
forms multimers
Von Willibrand’s presentation and diagnosis
Epistaxis Menorrhagia Easy bruising Bleeding with dental extractions Lab tests
Hard to diagnose
Technically APTT increased, it can be normal as vWF levels differs
DDAVP can be used in the treatment of?
Why?
Who should it not be used on?
mild haemophilia and vWF
Unclear mechanism, promotes release of vWF and Factor VIII from endothelial cells
Not to be used on <2yrs, causes water retention, low sodium and seizures
PFA increased in
NSAID/Aspirin use
von willibrand’s disease
APPT normal, PT normal in
vWF deficiency
platelet dysfunction
Child abuse
Self inflicted
APTT normal, PT increase
Warfarin
Factor VII deficiency - rare
APPT increased, PT normal, PFA normal in
Haemophillia
APTT increased, PT normal, PFA increased
Von Willibrand’s
