Counselling OSCE Paeds Haemophilia
- so what does it mean, how is it inherited, what is it going to be like living, prenatal testing
What Rare condition where your blood has difficulty clotting causing bleeding that
does not stop.
Normally, when you cut yourself, substances in your blood known as clotting
factors mix with blood cells called platelets to make your blood sticky and form a
clot. This makes the bleeding stop eventually.
People with haemophilia do not have as many clotting factors as they should
have in their blood. This means they bleed for longer than usual.
2 types. A (classic) & B (Christmas), due to loss of factor 8 & 9 respectively.
Is it my 2 in 3 has a genetic background, whereas it is sporadic 1 in 3. Although
fault? haemophilia is usually inherited, it can be acquired, such as in liver failure as liver
synthesises clotting factors, vitamin K deficiency, autoimmune condition and DIC.
Haemophilia is a X-linked recessive condition. As men is XY and women is XX, the
condition usually affects male as they do not have a normal X to make up for the
faulty X. However, female with a faulty X is a carrier meaning that they can pass
the faulty X chromosome to her children. We will investigate with a blood test
called a partial thromboplastin time which is for intrinsic pathway and is
prolonged.
Is my husband affected?
S&S The symptoms of haemophilia can be mild to severe, depending on the level of
clotting factors you have.
The main symptom is bleeding that does not stop such as nose bleeds, gums,
easy bruising of skin, bleed in urine
Mild: bleed after surgery (tooth extraction)
Moderate: bleed after minor trauma
Severe: spontaneous bleeding into your joints and muscles, where your joints
become stiff, hot and swollen (arthritis), and if recurrent leads to progressive
joint damage
Dangerous when you have a bleed in your brain
Genetic If you have a family history of haemophilia, the GP can refer you for a genetic
testing and genomic testing which can help you find out the risk of passing the condition
on to a child. In chorionic villus sampling (CVS) – a small sample of the placenta is
removed from the womb and tested for the haemophilia gene, usually during
weeks 11 to 14 of pregnancy. Amniocentesis – a sample of amniotic fluid is taken
for testing, usually during weeks 15 to 20 of pregnancy
There's no cure for haemophilia, but treatment usually allows a person with the
condition to enjoy a good quality of life.
Treatment is divided into replacement and prophylaxis. Replacement means
clotting factors injections or IV infusions whenever there is bleeding. It can last
up to 2 weeks if undergoing major surgery/ life-threatening bleed. You’ll also
usually be educated on ways to administer the replacement therapy at home to
avoid treatment delay.
Prophylactic begins at 2-3 age, given 2-3 times per week
MDT team (at designated haemophilia centres) with nurses, doctors,
physiotherapist (preserve muscle strength and avoid damage from
immobilisation), psychosocial support.
Desmopressin nasal spray in children 1 hour or oral
IV – half an hour
Advise You should avoid contact sports such as rugby, be careful taking medications
Can get affecting your ability to clot such as aspirin and ibuprofen, drugs injected into
normal your muscle should also be avoided. Take care of your teeth and gums and have
life? regular check-ups at the dentist.
Register at your local haemophilia centre. It's a useful source of advice and
support.
Suggest individual sports –
So he cannot play with his friend
Basketball
Is there a No cure
cure?
Home Cover sharp area
Additional Hepatitis A & hepatitis B
vaccine
Pain Lidnocaine local anaesthesia
Age
Bleeding Neonate – IVH or circumcision
history Toddler – starting to walk
Adolescent – heavy menses or nose bleeds
Surgery (tooth extraction)
Neonate Bleeding in the brain (IVH) or post-circumcision or prolonged oozing from heel
stick and venepuncture sites
Fmhx Bleeding
Pattern of bleeding (gums or skin – platelet or vWF) (muscles/ joints)
is it all boys?
DHx Anticoagulants
Investigation:
1. FBC + film
2. PT (2,5,7,10) + APTT (8,9,11,12), if both prolonged, mix with plasma to see if there is inhibitor
3. TT
4. D-dimer
5. U&E and LFTs
Differentials:
1. non-accidental injury
Symptoms of a brain haemorrhage include:
a severe headache
a stiff neck
being sick (vomiting)
a change in mental state, such as confusion
difficulty speaking, such as slurred speech
changes in vision, such as double vision
loss of co-ordination and balance
paralysis of some or all the facial muscles
Pain – injection – local anaesthesia gel – lidnocaine gel
Emla cream
