Haemophilia is a rare medical condition that affects the blood's ability to clot. It's usually inherited, although one in three babies born with haemophilia will have no known family history of it. Most people who have haemophilia are male.
1 in 10,000
males in the UK are
affected by Haemophilia
fewer than 1,000
females in the UK have
An injury forms: This is a crosscut of a torn blood vessel. We’ve highlighted parts in the blood used for clotting: platelets (used for filling ruptures) & fibrinogen (used to keep platelets together).
Platelets gather: The platelets gather at the injury point to form a platelet plug which stops further bleeding. It isn’t that strong but can hold initially whilst waiting for fibrin to strengthen the bond.
Fibrin attaches: In the bloodstream, fibrin is kept as fibrinogen to stop it attaching when not needed. When there’s an injury, platelets use a chemical to tell fibrinogen where it needs to attach and become fibrin again.
What haemophilia does: Haemophilia prevents blood clotting factors from being released, so fibrinogen is never told to turn into fibrin. This means there isn’t support for the platelet plug and it collapses, causing ongoing bleeding
How does it affect people?
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.
What are the symptoms?
The symptoms of haemophilia can range from mild to severe, depending on the clotting factors that a haemophiliac has. The severity of haemophilia is determined by the level of clotting factors in a person’s blood:
mild haemophilia – between 5% and 50% of the normal amount of clotting factors
moderate haemophilia – between 1% and 5%
severe haemophilia – less than 1%
Most cases are mild, but people with severe haemophilia experience symptoms that require ongoing care. The main sign of haemophilia is prolonged bleeding.
Although there’s no cure for haemophilia, treatment has come a long way in recent years and we’re excited about the future with advancements being made constantly. It’s important to remember that a mere 50 years ago, life expectancy for haemophiliacs was still just 20 years old! Nowadays, haemophiliacs can lead relatively normal lives – just take a look at Alex.
There are multiple treatment options available to haemophiliacs which are discussed at the time of diagnosis.
Most severe haemophiliacs will be on a form of prophylaxis treatment, which is the name given to regular treatment to prevent bleeds. This is typically intravenous and done three times a week to help the blood clot and minimise the likelihood of bleeds and long-term joint damage.
Similar to prophylaxis treatment, these are taken intravenously but will last longer in preventing bleeds. This is a new form of treatment which is still in final stages of trial but has been approved for use in the UK.
Treatment patterns are worked out individually, depending on treatment response and bleeding pattern. These drugs are likely to make a difference to many haemophiliacs because of the frequency in which they can be taken. Prophylaxis is good but requires on-going management of medicine and injections which can be a burden to many.
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