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Haemophilia

Haemophilia

 


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Condition
Haemophilia
Class
Blood
Description
Haemophilia is an inherited disorder in which the blood fails to clot normally. It is a rare condition that almost entirely affects just males. People with haemophilia lack the normal levels of 'clotting factors', special proteins that are necessary for the blood to clot properly. Haemophilia A (classical haemophilia), is the most common type of haemophilia and is the cause of about 80% of cases. It is due to a deficiency of factor VIII (factor 8). Haemophilia B (Christmas disease) is the second most common type of haemophilia and is the cause of about 20% of cases. It is caused by a deficiency of factor IX (factor 9).

Both haemophilia A and haemophilia B cause bleeding into the joints, muscles and other soft tissues, sometimes spontaneously. It is a common misconception that people with haemophilia may bleed to death from the most minor of cuts. This is not the case. A person with haemophilia simply has an increased tendency to bleed, and bleeds for longer.

There are also other related bleeding disorders, the most common of which is von Willebrand's disease, and deficiencies of other clotting factors but these are extremely rare. (See section on von Willebrand's disease)
Causes
In nearly all cases haemophilia is caused by inheriting a faulty gene. While only males have the condition, it is passed through the female line in the family from generation to generation.

The genes for both factor VIII and IX are found on the female sex chromosome (the X-chromosome). Two chromosomes determine the sex of an individual. These are the X and Y chromosomes. Females have two X-chromosomes (XX), and males have an X and Y-chromosome (XY). A child will inherit a chromosome from each parent. The faulty gene that causes haemophilia is on the X-chromosome. If the mother carries the haemophilia gene on one of her X-chromosomes and the father does not suffer from the condition, there is a 50:50 chance of a male child having haemophilia, as he will inherit one of his mother's X-chromosomes. If it is the X-chromosome with the faulty gene, he will have haemophilia. If it is the normal X-chromosome, he will not have haemophilia. If the child is female there is a 50:50 chance that she will carry the haemophilia gene, as she will inherit one X-chromosome from her mother. If it is the X-chromosome with the faulty gene, she will be a carrier for haemophilia, able to pass the disorder on to the next generation if she has children. If it is the normal X-chromosome, she will not have haemophilia nor will she be a carrier. If the mother is not a haemophilia carrier, but the father has haemophilia, a female child will be a carrier, as she will have a normal X-chromosome from her mother and a faulty X-chromosome from her father. A male child will not be affected, as he will inherit his father's normal Y-chromosome and his mother's normal X-chromosome. The son cannot pass haemophilia on to future generations.

Although in the majority of cases haemophilia is an inherited condition, in about one third of cases haemophilia can arise as a result of a spontaneous mutation on the X-chromosome of the male with haemophilia, or on the X-chromosome of his mother, even though there is no previous history of the condition in the family.
Symptoms
The symptoms of haemophilia vary depending upon how much factor VIII or factor IX is missing. The greater the deficiency of the clotting factor, the more severe the symptoms and the earlier they are likely to appear.

The most common symptoms are prolonged bleeding from cuts, nose bleeds and bruising. These usually occur as a result of an injury, but they may also occur spontaneously. Bleeding into joints causes swelling and pain, particularly of the knees, elbows, ankles and wrists. Blood may appear in the faeces and urine.

Babies seldom have problems before they reach the crawling/walking stage. These activities will produce the inevitable knocks which can cause bruising or bleeds into joints. Painful swelling or reluctance to use an arm or leg is an indication that a bleed has occurred.

As children grow they learn to recognise that a bleed may be occurring. Aches, tingling or irritation in an affected area are often experienced when a bleed begins. If treatment is not administered there follows pain and stiffness, limitation of use of the arm or leg, the site of the bleed will get hot, swollen and progressively more and more tender. It is important to rest a joint, as this will help the healing process following treatment.

A joint, which has been affected by repeated bleeds, can become weak. This is known as a target joint and is prone to frequent bleeding episodes, perhaps resulting in permanent damage to the joint that can restrict movement.
Treatment
Haemophilia A and B are treated by replacing the missing clotting factor. Treatment consists of an injection of a concentrate of the factor into a vein. Synthetic factors, known as recombinant factor VIII and IX produced by genetic engineering, are the treatment of choice for haemophilia. Factors obtained from donated blood, treated to reduce the risk of transmission of blood borne viruses such as HIV, hepatitis B and C, are used but the transmission of infective agents cannot be totally excluded. Consequently, appropriate vaccination (hepatitis A and B) for patients in receipt of plasma-derived factor concentrates is recommended

A person with mild or moderate haemophilia A will, in most cases, be treated 'on demand' following trauma or before surgery. Minor cuts and scratches do not usually pose problems. A little pressure and a plaster will usually do. In some cases a drug called desmopressin can be given by injection or as a nasal spray as this stimulates the body to release factor VIII. Although people with mild and moderate haemophilia have bleeds infrequently, it is recommended that they attend their haemophilia centre for at least an annual review.

Modern treatment for people with severe haemophilia aims to prevent bleeding and joint damage. For children and young people this involves 'prophylactic' treatment (injections two or three times a week to keep clotting factor levels high enough to stop spontaneous bleeds). The amount of factor prescribed will depend on the baseline level of factor and body weight. For emergency treatment/treatment on demand a single injection is usually enough to control a bleed.

Most minor bleeds can be treated in the home (home treatment). Parents can be trained to inject their children and the children will eventually learn to give themselves injections.

Thanks to the introduction of home treatment, people with haemophilia have regained their independence and do not need to attend specialist haemophilia centres for all their treatment needs. School and work attendance is more regular and the individual has greater control of her/his life. Hospital stays are infrequent and are usually only required for special treatment such as bleeds caused by trauma to the head.
When to see your pharmacist
Let your pharmacist now that you or a member of your family has haemophilia. While there are no medicines that a pharmacist can sell to treat the condition, your pharmacist will be able to advise you on the correct storage of your injections and the various accessories that come with the factors to make self-administration easier.
When to see your doctor
Visit your doctor if you have a family history of haemophilia and you are worried. Your doctor will ask you questions about your family's medical history and may take a blood sample to test if haemophilia is suspected.

If you are pregnant, tests can be performed to determine whether you are a carrier of the faulty gene responsible for haemophilia. If you are a carrier you will be counselled on the chances of your passing the condition onto your children.
Living with haemophilia
Learning that your child has haemophilia can cause a whole range of different emotions. As a parent, you may feel guilty about passing on faulty genes to your children. These feelings are normal, and are likely to change as you learn more about haemophilia and the effects it will have on your child's life.

The important thing to understand is that you are not alone, there are healthcare professionals who are there to help. Talk with family and friends, join self-help groups and talk with others who are affected by haemophilia. Get as much information as you think is necessary to help you understand haemophilia and to answer any doubts or fears that you may have. Sharing information with other family members will help them decide if they too need to be tested for haemophilia. Teachers should also be informed to allow them to cope with any accidents or mishaps such as a nose bleed that a child may have while at school.

Try to stay physically fit. Regular exercise helps keep muscles and joints in good working order and helps reduce the number of bleeding episodes. If your child wants to take part in sporting activities, take advice from haematologist. Depending on the severity of haemophilia, some sports such as contact sports are inadvisable because of the risk of serious bleeds.

Learn to plan ahead. When travelling, take the contact details of the centres that treat bleeding disorders that are near where you will be staying. Also remember any medicines that you may need and carry information about your disorder, and the contact details of your treatment centre back home. It may also help to carry a medical bracelet or other identification in case of emergencies.

If your child needs dental work or surgery, let your dentist or surgeon know to help them plan in advance. Treatment may be necessary before any type of surgery, including dental extractions.

Get to know the medicines you can and cannot take. The most common type of medicines to avoid are the non-steroidal anti-inflammatory agents such as diclofenac, ibuprofen and naproxen, but there are many others, including some herbal preparations such as Ginkgo biloba, ginger and feverfew. Always check with your pharmacist before purchasing any medicine to self-treat a minor illness.

While it is natural for parents to be concerned about their child, it is important that you are not over-protective. Children with haemophilia can live perfectly healthy lives, and should be encouraged to go to school and take part in exercise based on recommendations of their doctor. Do not try to conceal haemophilia from your child. Telling your children about haemophilia from an early age will help them understand and cope with the condition as they grow older and have to look after themselves.
Further information
The Haemophilia Society
The Haemophilia Society is the only national and independent organisation for all people affected by bleeding disorders. The Society is led by affected people and works in close partnership with the NHS. It provides information and support for all people affected by bleeding disorders and represent their interests. In Scotland, The Haemophilia Society is known as Haemophilia Scotland. The Haemophilia Society
1st Floor, Petersham House
57a Hatton Garden,
LONDON, EC1N 8JG
Tel: 020 7831 1020
Fax: 020 7405 4824
Email: info@haemophilia.org.uk

Freephone helpline:
0800 018 6068
Web site: http://www.haemophilia.org.uk/

Haemophilia Scotland
PO BOX 5729
Inverness
IV2 4NX
email: susan@haemophilia.org.uk
email: dan@haemophilia.org.uk

World Federation of Haemophilia
The World Federation of Haemophilia (WFH) is an international not-for-profit organisation dedicated to improving the lives of people with haemophilia and related bleeding disorders. World Federation of Haemophilia
1425 Rene Levesque Blvd. W.
Suite 1010
Montreal, Quebec
H3G 1T7 Canada
Tel.: +1 (514) 875-7944
Fax: +1 (514) 875-8916
Web site: http://www.wfh.org/index.asp?lang=EN


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