Dealing with your haemophilia

What is haemophilia?

Haemophilia is a bleeding disorder, but to understand it we need to know about blood. Do you know that blood is made up of many different parts? Each part of the blood has a special job to do. Some parts of the blood control bleeding, these parts are called clotting factors. When a vein carrying blood is injured a hole is formed and blood begins to flow out. This bleeding can happen outside the body or on the inside of the body, where you cannot see it. When there is a hole in one of the veins the clotting factors in the blood work together to form a clot at the hole. A clot is like a plug that fills/covers the hole to stop any more blood from flowing out. The body will try to form a clot every time you bleed. There are fourteen clotting factors, but when one clotting factor is missing the others cannot do their job. This is what happens in haemophilia; a clotting factor is missing from the blood or is there in little amounts so when an injury occurs and you start to bleed, the bleeding takes longer to stop as it will take longer for a clot to form.

Haemophilia is a problem with the blood in which there is not enough of one factor for blood clots to form the way they should. The most common types of haemophilia are Haemophilia A (where the missing factor is factor VIII) and Haemophilia B (where the missing factor is factor IX). There are three levels of haemophilia that a person can have – Severe, Moderate or Mild.

How do you get haemophilia?

Haemophilia is an inherited condition that you are born with, meaning something that is passed on to you from your parents. For example, you might have inherited your mother’s blonde hair or you Dad’s blue eyes. This is how someone has haemophilia, they have inherited blood from their parents that is missing one of the fourteen clotting factors.

How is haemophilia treated?

Haemophilia can be treated in a number of ways. One way is by adding the missing factor to a person’s blood, the missing factor can be sent into the body with a needle by inserting the needle into a vein. When factor is added to the body this is called an infusion. An infusion of factor can help a clot to form whether the person is bleeding on the inside or the outside.

It is recommended that all people with severe haemophilia who are over two years of age or who have had two joint bleeds receive regular doses of coagulation factor concentrate to prevent spontaneous bleeding and reduce the risk of long-term side effects. This is called prophylaxis. For people with severe factor VIII and factor IX deficiency, this involves an injection of coagulation factor concentrate into the veins on a regular basis, usually one to two times per week. In Ireland, the factor concentrates currently used are extended half life factor concentrates which are infused less regularly then regular factor concentrates and offer more protection against bleeding episodes.

From late 2019, a new generation of treatment for people with severe factor VIII deficiency became available as an option in Ireland. This treatment, called Hemlibra, is a monoclonal antibody which mimics the effect of factor VIII. It can be infused weekly or every 2 weeks subcutaneously (under the skin) thereby avoiding the requirement for regular intravenous injections. This treatment offers a high degree of protection against bleeding but can not be used to treat bleeding episodes. In the event of a bleeding episode, intravenous infusion with FVIII concentrate will continue to be required. This subcutaneous therapy can not be used for factor IX deficiency so, in this case , the routine treatment will continue to be extended half life factor IX concentrate.

How blood clots and what happens in haemophilia

Typically when the body is injured blood clots to form a scab. This stops the bleeding and provides protection while the body repairs itself. In mild and moderate haemophilia this also happens, but sometimes the clot is weaker and breaks down before the repair process is finished which can mean that the bleeding restarts. This clotting process is very complicated and is often described in books using relay races or toppling dominos to help explain it.

The different ways blood clots in severe, moderate and mild haemophilia

To illustrate the difference between severe, moderate and mild haemophilia it might help to think of the amount of clotting factor in a person’s body like the amount of air in a football. Usually, the ball is fully inflated, it can be kicked long distances and it can be bounced really high. In mild and moderate haemophilia the ball is not fully inflated, in fact, it’s less than half full. The ball can still be kicked and bounced, but not as far or as high. It is not as easy to use as the fully inflated ball, but it still works. This is different to severe haemophilia where there is so little air in the ball that it is barely inflated at all. It cannot be used and it needs pumping up. This is why, in severe haemophilia, more treatment with factor is needed.

Understanding what treatment is suitable for you

Your doctor or nurse at the haemophilia centre will tell you what type of haemophilia you have and what the clotting factor level is. They will use this information to work out what treatment may be needed. For example, people with mild or moderate haemophilia often have enough clotting factor to cope with minor injuries. This means they may only need treatment if they have a serious accident or an operation. In fact, some people only have their haemophilia diagnosed when these things happen because previous minor injuries have healed normally.

How do you feel about having haemophilia?

If your haemophilia has recently been diagnosed it has probably been a shock. But although it may be difficult at first, remember there is much more to your life than haemophilia. Don’t let your condition dominate everything you do. Instead, learn as much as possible about haemophilia, so you know what to expect and what to do if problems arise.

How will haemophilia affect me?

People with mild or moderate haemophilia do not usually have bleeding problems in everyday life. They tend only to have problems after an injury, an operation or dental treatment. Those with moderate haemophilia should nevertheless be aware that bleeds could happen from less severe injuries and that nosebleeds may be more frequent and last for longer. Make sure that you learn from the staff at your haemophilia centre how to recognise a bleed and what to do. In contrast to those with mild or moderate haemophilia, people with severe haemophilia have spontaneous bleeds into joints and muscles even when they have not been injured. They need treatment to stop these bleeds or to prevent them.

You are not alone

Finally, remember you are not alone. Your haemophilia is now part of your life, but it does not need to dominate every day. Get to know the staff at your haemophilia centre. Although you should not need to contact them very often, it helps to have a familiar person to talk to when you are concerned. Remember they are always there to help you if you need them.