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Haemophilia in adults
Published by Bupa's health information team, March 2008.
This factsheet is for people who have haemophilia, or who would like information about it.
Haemophilia is an inherited bleeding disorder which means blood doesn't clot properly. It's a life-long condition and although it can't be cured, haemophilia can usually be effectively controlled so that there is minimum disruption to your everyday life.
About haemophilia
Around 6,000 people in the UK have haemophilia, mainly men and boys.
Haemophilia is an inherited disorder of the blood-clotting system. If you have haemophilia, you have lower than normal levels of clotting factors in your blood. Clotting factors make your blood turn from a liquid into a sticky solid (a blood clot) and stop or limit the bleeding from damaged blood vessels.
If you have haemophilia, you won't bleed to death from a minor cut - but bleeding may tend to restart after initially stopping and may last for longer than it would in someone without the condition. You may bleed into your joints and muscles (known as 'bleeds') usually as a result of an injury, although in more severe cases, bleeds can happen spontaneously - that is, without any obvious cause. You can also be at risk of bleeds if you have surgery or have a tooth extracted without any precautions being taken.
Types of haemophilia
There are two main types of haemophilia.
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Haemophilia A - also known as classical haemophilia - is the most common type of the condition and is caused by a lack of clotting factor VIII (factor 8).
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Haemophilia B - also known as Christmas disease - is less common and is due to a lack of factor IX (factor 9).
There are three levels of haemophilia, depending on how much clotting factor you have in your blood.
- Mild - you will generally only need treatment after a severe injury or during surgery.
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Moderate - you are more likely to have bleeds after a minor injury and during surgery rather than have spontaneous bleeds.
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Severe - you may have bleeds spontaneously, after an injury and during surgery.
Symptoms
The symptoms of haemophilia A and B are the same and include:
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an ache, tingling or irritation in your joints, usually in your knees, elbows or ankles - this is the first sign that you are having a bleed
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pain and swelling in your joints
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large and deep bruises
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prolonged bleeding after a cut, tooth extraction or surgery
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blood in your urine or faeces
Although not necessarily a result of haemophilia, if you have these symptoms you should visit your GP.
How do you get haemophilia?
Haemophilia is a genetic disorder. This means that the haemophilia gene is passed down from parent to child. There is usually a family history of haemophilia, but one in three people with haemophilia have no family history of the condition and it occurs because of an spontaneous change (mutation) in the genes.
The chromosomes that determine whether a person is a male or female are called the X and Y chromosomes. Males have one X and one Y chromosome, and females have two X chromosomes. Chromosomes are structures that carry genes which contain the instructions for life and are inherited from your parents. The genes for haemophilia A and B are only on the X chromosome.
Men only have one X chromosome, so if you inherit the haemophilia gene, you will have haemophilia. Women have two X chromosomes, so if one X chromosome has the haemophilia gene, the other one will usually make up for it and you will not have haemophilia. Although extremely rare, women can be affected but only if both the mother and father carry the haemophilia gene and both pass it on to their daughter.
Women who have the haemophilia gene on one of their X chromosomes are called carriers. The daughter of a man with haemophilia will automatically be a carrier because she will inherit the X chromosome from her father. Being a carrier means she is very unlikely to have the condition herself but could pass the gene onto her children. If the X chromosome carrying the haemophilia gene gets passed on to her son, he will have haemophilia. Sons will have a 50 percent chance of having haemophilia and daughters will have a 50 percent chance of being carriers, if the mother is a carrier and the father is unaffected.
Occasionally female carriers do have low levels of clotting factor VIII or IX and have symptoms of the condition.
How haemophilia can be passed from parent to child
Diagnosis
Your GP will ask about your symptoms, examine you and will take a blood sample which can test whether you have haemophilia or if you are a carrier.
Children with severe haemophilia are usually diagnosed within the first year, but if you have moderate or mild haemophilia it may not be diagnosed until adolescence or even adulthood. Children who have a family history of the disorder may be tested and diagnosed before they have symptoms.
Treatment
There is no cure for haemophilia but with treatment it can usually be effectively controlled.
There are a number of haemophilia centres across the UK that will provide you with specialist care and treatment (see Further information).
Bleeds are treated by injecting a factor concentrate of the relevant clotting factor (VIII or IX) into a vein. Bleeding stops, or is prevented, when an adequate level of the factor in the blood is reached. It's important that you get treatment as quickly as possible to reduce pain and prevent long-term damage.
Factor concentrate can either be a synthetic genetically engineered concentrate, known as recombinant factor or can be made from human blood plasma (the fluid part of blood).
Treatment for mild haemophilia
If you have mild haemophilia, you will usually only be given clotting factor concentrate before surgery or after a severe injury. A minor cut may not bleed excessively and can usually be treated by applying pressure and covering the cut with a plaster or bandage.
If you have a mild form of haemophilia A, you may be prescribed a medicine called desmopressin which stimulates your body to produce more factor VIII. A medicine called tranexamic acid may also be given which can help with blood clotting.
Treatment for moderate or severe haemophilia
If you have moderate or severe haemophilia, you may be given:
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regular injections of clotting factor to prevent bleeds (known as prophylactic treatment)
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an injection of clotting factor concentrate after a bleed or before and after you have surgery (known as "on demand" treatment); these may need to be repeated for a number of days
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a medicine called tranexamic acid may also be given to help with blood clotting
Many people with haemophilia learn to inject themselves or have a carer give the injections. Alternatively, you may have a small device, called a port-a-cath, placed under the skin which empties directly into one of your veins. Home treatment gives you greater flexibility as you won't have to see a medical professional each time you need treatment, and allows bleeds to be treated more quickly.
Complications
Untreated bleeds can be very painful and can cause longer-term damage.
A joint that has been affected once may become prone to frequent bleeds. This is known as a 'target joint'. Repeated bleeding into the joints without treatment can damage and lead to chronic arthritis and even disability.
If you have a head injury or have a bleed into your throat, gut, bladder or kidney area you will require immediate hospital assessment and treatment. The symptoms of:
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a bleed in the brain include a headache, dizziness, vomiting, unusual sleepiness and dilated or unequal pupils
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a neck and throat bleed include tenderness, pain or swelling in the neck
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a bleed in the gut include coughing or vomiting blood, passing black faeces and pain in the abdomen
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a kidney or bladder bleed include passing reddish-brown urine
Your immune system, which helps the body fight infection, may develop antibodies which stop the replacement clotting factor from working. These antibodies are known as inhibitors. Bleeds can still be treated successfully in this situation. You can be given more clotting factor to make up for the amount destroyed or given other special blood products.
Special considerations
Medicines
You shouldn't take any product that contains aspirin if you have haemophilia as it can add to problems with bleeding. Always check the patient information leaflet that comes with your medicine and consult your doctor or pharmacist for advice.
Starting a family
If you are a carrier or have haemophilia and are planning to start a family, your GP or a genetic counsellor will be able to give you and your partner advice.
During pregnancy your unborn baby can be tested for haemophilia. Chorionic villus sampling, an amniocentesis or foetal blood sampling are tests available (see Related topics). If there is a chance your baby will have haemophilia, extra precautions will be taken during the birth; your doctor or midwife will discuss this with you.
Living with haemophilia
Doing exercise and having strong muscles can help protect you from spontaneous bleeds and joint damage. You can take part in many sports and activities but you should think carefully about which ones you choose. Non-contact sports such as swimming, cycling and walking are usually safe, but contact sports such as rugby, football and boxing should generally be avoided, particularly if you have severe haemophilia.
It's important that you carry details about your condition and treatment with you at all times in case of emergencies. Usually, you will be provided with a card or bracelet giving full details of your condition by your local haemophilia centre (see Further Information).
Further information
Related topics
Sources
- The Haemophilia Society. www.haemophilia.org.uk, accessed 26 July 2007
- World Federation of Haemophilia. www.wfh.org, accessed 26 July 2007
- Longmore M, Wilkinson I, Torok, E. Oxford Handbook of Clinical Medicine. 5th ed. Oxford: Oxford University Press, 2002
- Delivery of treatment for haemophilia. The World Health Organisation. February 2002. www.who.int
- Haemophilia B. Medline Plus. nlm.nih.gov/medlineplus, accessed 26 July 2007
- Bleeding sites. National Haemophilia Foundation. www.hemophilia.org, accessed 3 August 2007
- Clinical Features - Haemophilia A. GP notebook. www.gpnotebook.co.uk, accessed 31 July 2007
- British Medical Association, Royal Pharmaceutical Society of Great Britain. British National Formulary 53. March 2007. London: BMJ Publishing Group Ltd, RPS Publishing, 2007
This information was published by Bupa's health information team and is based on reputable sources of medical evidence. It has been peer reviewed by Bupa doctors. It has also been reviewed by The Haemophilia Society. The content is intended for general information only and does not replace the need for personal advice from a qualified health professional.
Publication date: March 2008.