Haemophilia
Haemophilia is a rare inherited lifelong blood condition that affects the blood’s ability to form clots, therefore there is a risk of any small bleed becoming life-threatening as it’s difficult to stop the blood flow.
If you are a haemophiliac, you may get unexpected or prolonged bleeding, and specific risk arises with bleeding after any impact or injury, such as during sports, surgery, dental work, vaccinations or trauma.
As a haemophiliac you may notice you bruise very easily, you may get swelling and pain around the joints (from bleeding internally) or blood in the urine or stool. Bleeding gums and nose bleeds may last longer than expected.
While the risk of continuous bleeding is high, it’s worth mentioning that there are a number of factors in your blood that help it clot. But to efficiently stem the blood loss before too much has drained out, all factors should be working together.
It’s, therefore, a good idea to wear a wristband to alert the world of your condition, should you become unwell or be involved in an accident, as doctors would need to take precautionary measures for any treatment.
This condition is rare, but within sufferers, it only causes symptoms in men. The two main types are haemophilia A and haemophilia B and there is also a much rarer type called haemophilia C.
Haemophilia A results from a deficiency of the blood clotting factor VIII whereas haemophilia B is caused by lack of clotting factor IX.
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Is it genetic? Do we inherit it?
Haemophilia occurs due to a change to one of the genes responsible for clotting your blood and occurs almost exclusively in males because this gene is only found on the X chromosome and so occurs from an X-linked recessive inheritance pattern.
Now for an explanation of the genetics! Men are affected and women are not but they can be carriers of the condition. This is because haemophilia passes via the X chromosome. Men have one X and one Y, so if they inherit an affected X chromosome from their mother, they will have the disease.
Women have two X chromosomes, so if they inherit an affected X chromosome and a normal X chromosome, the normal one wins and they don’t get the disease. Being a carrier does not cause them any problems – they have no symptoms or problems clotting – but it is a consideration for when they are thinking of having their own children, as they could pass the condition on via their affected X chromosome.
If Mum has an affected X chromosome: it’s a 50:50 chance each boy will get the haemophilia X and be affected, or they get the normal X and the disease chain ends. For the girls, again it's a 50:50 chance they will have the haemophilia X to carry and pass on, or they get the normal X and the disease chain ends.
If Dad has haemophilia, his son can’t be affected but his daughter may be a carrier.
When should I see my doctor?
Haemophilia is an inherited condition, so someone in your family may be affected by it. If you know this to be true of yourself or your own family, it’s best to talk to your doctor before planning any pregnancy – they may refer you to a specialist service to discuss implications for your future children. You may also need added measures to ensure you are safe through pregnancy and delivery.
If a close relative – a parent, sibling or child – is diagnosed with this or another inherited clotting disorder, it’s important to see your doctor, who may refer you to a specialist clinic to calculate your own risk.
Even without a history of haemophilia in yourself or the family, if you notice your toddler or child is bruising or bleeding easily or for a longer period than you would expect, or they have swollen painful joints, it’s important to speak to your doctor to investigate the cause further. This can have a number of causes but requires further examination and investigation.
Is there a test?
Haemophilia is diagnosed through blood tests. These confirm the presence of either type of haemophilia, and they indicate the severity of the disease, which can vary from person to person.
If you’re planning to get pregnant and have a family history of haemophilia, genetic testing is available for you. Waiting lists for this on the NHS can be lengthy, so it’s a good idea to start this process well in advance.
If you are already pregnant, there are tests available in the second trimester to confirm the presence of this disease such as amniocentesis and chorionic villous sampling. These procedures come with a small risk of miscarriage or early labour, but you can discuss the pros and cons of these with your treating specialist.
It’s possible to test soon after the delivery of your baby, where a sample of blood is taken from the umbilicus.
If you have a mild form of haemophilia, it’s possible for this to only be picked up later in life. Sometimes a dental or surgical procedure prompts suspicion, or from an accident causing bleeding. If doctors suspect a clotting disorder, they will take a blood test for haemophilia among other clotting disorders.
Is there a cure?
There is no cure for haemophilia. However, there are treatments that help people suffering from the symptoms to achieve a normal quality of life, with a few caveats. People can be injected regularly with clotting factors to stop them from bleeding or on the occasion to prevent them from having prolonged bleeding, for example after certain procedures.
It’s recommended you avoid contact sports, such as rugby, boxing or football. You should take good care of your teeth – well, everyone should, but you have a more pressing reason for avoiding root canal than most. Let any dentist or doctor know about your condition before any procedures, no matter how minor. Finally, you should be cautious about some medications that can affect clotting, such as ibuprofen and aspirin.
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