Haemophilia

This is an uncommon condition that is inherited and prevents the blood from clotting normally. People who have haemophilia may experience prolonged and excessive blood loss following accidents or injuries. Internal bleeding, usually in the joints, is also possible.

Babies who have haemophilia at birth are lacking in a protein known as clotting factor, which causes the blood to clot (also known as coagulation). People suffering with haemophilia have problems relating to this protein.

Haemophilia is caused by:

• Low clotting factor levels.
• The absence of clotting factor.

When the body is missing or lacking in clotting factor, this can cause the clotting process to take a prolonged amount of time, meaning that people with the condition bleed for longer following trauma or an injury.

Clotting

An accident or injury triggers a response in the body which makes the blood clot to stem blood loss; this complex process is known as coagulation. This is the body's way of preventing loss of blood because if you lose a large proportion of blood, it can cause serious health problems and even death.

Clotting factor

These are proteins which are involved in the clotting process. Clotting factors work alongside platelets (type of blood cell) to form clots and stem blood loss. When bleeding happens clotting factors cause the platelets to attach to form a blood clot at the location of the wound.

Haemophilia inhibits the normal clotting process because there is either a lack or absence of clotting factor. If the blood doesn't clot in the normal way this can cause the following problems:

• Intense blood loss.
• Significant blood loss.
• Injury and damage to the tissues and organs (this may be permanent in severe cases).
• Death.

In some cases, patients with haemophilia may require transfusions of clotting factors to stem blood loss.

Forms of haemophilia

Two core forms of haemophilia are apparent:

• Haemophilia A: this is due to a lack or absence of clotting factor VIII. It is the most common form of haemophilia and affects around 90% of people with the condition.
• Haemophilia B: this is due to a lack or absence of clotting factor IX.

Haemophilia can also develop when the body makes antibodies as they attack the clotting factors – but this page will focus on inherited haemophilia.

Haemophilia can range from mild to severe and is classified according to the figure of clotting factors within the body. Figures show that around seventy percent of people who suffer with haemophilia type A have severe haemophilia. The normal percentage of clotting factor VIII is one hundred percent; however, individuals with the severe form of haemophilia type A have less than one percent.

Terms for haemophilia

Haemophilia type A:

• Factor VIII deficiency.
• Classic haemophilia.

Haemophilia type B:

• Factor IX deficiency.
• Christmas disease.

Causes of haemophilia

This is a hereditary condition and is the result of a deficiency in the genes which contain the information about the production of clotting factors IX and VIII. They are situated in the X chromosome which determines the sex of a baby. Chromosomes are found in twos; two X chromosomes for women and men have one Y and one X chromosome. A female can be a haemophilia carrier and if she is in possession of this faulty gene for either clotting factor VIII or IX she can give the disorder to her child.

Female carriers for haemophilia have a:

• 50% chance of having a son with haemophilia.
• 50% chance of having a daughter who will also be a carrier.

It is not possible for men who have haemophilia to pass the condition on to a son, but all his daughters are to be carriers of the condition. If the dad has haemophilia and the mum is a carrier of the condition, a baby girl can be born with haemophilia; but this is very rare.

It is possible for a mother to give birth to a son with haemophilia if she is not a carrier, in which case the condition is brought about by a genetic mutation, rather than inheritance.

Symptoms and signs of haemophilia

The main signs of haemophilia are bruising and blood loss.

Internal blood loss is a common symptom if people are suffering with haemophilia that is severe. If it is not treated quickly internal blood loss may result in lasting damage to the organs, tissues and even death. The amount of bleeding is heavily dependent on the condition's severity:

• In some cases, children who have mild haemophilia do not experience any symptoms for a long period of time. The first symptoms will become apparent following an accident, injury or accident, or medical or dental surgery.
• Children who have mild or moderate forms of the condition may not exhibit any signs of haemophilia when they are born.
• Males who have haemophilia may experience heavy or prolonged blood loss following circumcision.

The first symptoms in children are usually:

• Bruising and blood loss when the teeth first cut through the gums.
• Blood loss and bruising from falling over when learning to walk.
• Inflammation and bruising around the joints caused by internal bleeding.

Female carriers of haemophilia do not usually experience symptoms of the disorder. This is because they have sufficient sums of clotting factors by means of their healthy, normal gene.

In adults and older children the symptoms are often:

• Blood loss within the joints (this is known as hemarthrosis).
• Blood loss following dental treatment.
• Blood found in the urine (caused by blood loss in the bladder or kidneys).
• Blood in the stools (caused by blood loss in the stomach or intestines).
• Unexplained nosebleeds.
• Bruising and blood loss in the muscles and soft tissue.

The main symptom is blood loss in the joints and can occur in the absence of injury, lasting for a number of days if left untreated. Most people with haemophilia can distinguish the symptoms of a bleed early and can seek treatment quickly, reducing the risk of permanent damage. Blood loss can affect many joints but the knees, elbows and ankles are normally affected.

Indicators of blood loss in the joints are:

• Stiffness in the affected joint (usually without any pain to begin with).
• Pain which usually come on before visible blood loss.
• Swelling and warmth around the joint.
• Pain when extending or flexing the joint.
• Increased swelling and pain.
• Restricted movement and gradual loss of movement.
• Noticeable signs of blood loss (usually days after the first symptoms appear).

If blood loss occurs in the brain it requires urgent treatment; although this is a rare it is an extremely serious threat of haemophilia. Bleeding on the brain can occur following an injury or trauma, with symptoms including:

• Severe, long-lasting headaches.
• Persistent vomiting.
• Alterations in behaviour and feeling very tired.
• Feeling very weak (this comes on suddenly).
• Pain and stiffness in the neck.
• Seizures and fits.
• Problems with walking.

What is the diagnosis process for haemophilia?

If a doctor suspects that a patient has haemophilia they will obtain a full medical history, including details of family history, and carry out tests and a physical examination. Blood tests will also be ordered to determine:

• The sum of clotting factors in the blood (to check for low levels or the absence of a clotting factor).
• The time it takes for the blood to clot.

The results of the tests will confirm whether or not an individual has haemophilia and what form of haemophilia is present. The results will also determine the severity of haemophilia. Haemophilia types A and B are categorised according to the levels of clotting factors VIII and IX:

• Mild haemophilia: between five and thirty percent of normal factor.
• Moderate haemophilia: between one and five percent of normal factor.
• Severe haemophilia: lower than one percent of normal factor.

Blood loss can arise in cases of severe haemophilia among young children. In most cases, severe haemophilia is diagnosed within the first 12 months of a baby's life, while mild and moderate cases are not identified until much later. Blood loss problems are alike for patients with both forms of haemophilia and so blood tests can confirm which type of haemophilia an individual has. It is vital for the specific type of haemophilia to be diagnosed for treatment purposes.

Haemophilia treatment

The most common treatment is replacement therapy and involves either the adding to or replacement of the existing clotting factor. Concentrated forms of clotting factor are injected or infused into the blood, as follows:

• Clotting factor VIII for haemophilia type A.
• Clotting factor IX for haemophilia type B.

The form of treatment depends on the condition's severity and other factors:

• Mild haemophilia: there is normally no need for replacement therapy. Instead, a form of medication known as desmopressin may be used to boost the sum of clotting factor VIII. This is usually given following injury or ahead of dental treatment to reduce blood loss, since the effects of medication wear off as a result of long-standing use. Desmopressin is only given to patients with haemophilia type A.
• Moderate haemophilia: most people with moderate haemophilia only require treatment when bleeding happens (after an accident or fall) and most people learn the markers of bleeding in order to get treatment swiftly. Treatment may also be given to avert bleeding, which may be caused by taking part in certain activities.
• Severe haemophilia: it is common for individuals with the severe form of haemophilia to require continuing treatment and short-term preventative treatment, so as to reduce the risk of permanent harm to the joints and tissues. In some cases, individuals with the severe form of haemophilia require treatment only if blood loss occurs.

If bleeding happens it is imperative to seek treatment quickly as the risk of damage increases with time. It is important for persons with haemophilia to distinguish the indicators of bleeding so they can receive treatment promptly.

Origin of clotting factors

Clotting factors employed in replacement therapy are derived from two supplies:

• Human donor blood.
• Clotting factors made in the laboratory (recombinant factors).

Both sources of clotting factor are safe, but lab-produced factors are typically preferred because there is no risk of viruses in human blood. Recombinant factors work in exactly the same way as clotting factors naturally found in the blood.

Initially, doses are higher than usual as only half of the action of clotting factor VIII is used within the first twelve hours and half the action of clotting factor IX is used within the first twenty-four hours. Modern clotting factors are powerful and effective and can also be stored and mixed up easily at home, which means treatment can be administered within fifteen minutes.

Replacement therapy to stop blood loss

Replacement therapy may be administered on a routine basis to stop blood loss. This approach works on the basis that the amount of clotting factor will be high enough to avoid bleeding, usually being recommended for people who have severe haemophilia. Children may also be given preventative treatment to reduce the risk of blood loss in the joints.

Preventative replacement therapy may be used:

• As a long-lasting treatment (usually given twice a week).
• On a temporary basis (given regularly over the course of around 2-3 months).
• On a temporary basis prior to activities that may cause blood loss.

Preventative replacement therapy is typically administered at home, being effective but also expensive.

Replacement therapy to avert blood loss

This form of therapy is administered to stem bleeding rapidly to prevent harm to the tissues and joints. Replacement therapy to obstruct bleeding is commonly used for individuals with moderate or mild haemophilia. The dose of clotting factor depends on several factors, including:

• The form of haemophilia.
• The site of blood loss.
• The severity of bleeding.
• The patient's body weight.
• If the patient's body has developed antibodies to resist the clotting factors.

Replacement therapy in this case is less expensive, though a chance of blood loss prior to treatment is apparent. It is imperative that patients using this treatment become familiar with the indicators of blood loss so they can get treatment promptly. If a child has haemophilia it is beneficial for family members to learn about the symptoms of blood loss to ensure immediate treatment is sought.

Difficulties of replacement therapy

Possible complications are:

• Developing antibodies that resist the action of the clotting factors.
• Harm to the joints and muscles due to delayed treatment.

Antibodies to the clotting factors

Antibodies can destroy clotting factors before they have an opportunity to start working. This is a serious predicament because it renders the major treatment of haemophilia ineffective. Around 20 % of individuals with the severe type of haemophilia type A and 1 percent of individuals with haemophilia type B develop clotting factor antibodies. If this occurs doctors may increase the dose of clotting factors or use clotting factors from a different source. In some cases, clotting factor antibodies disappear and treatment can be effective.

Viruses derived from human blood

Viruses that lead to hepatitis and AIDS (HIV) may be transmitted via clotting factors, but rigorous screening programmes are in place to reduce the risk of infection. No cases of transmission have been recorded over the last decade. Cross-infection is prevented by:

• Screening donors.
• Blood screening.
• Treating donor blood samples with heat and detergents to kill viruses.

Researchers are working on new methods to make the use of donor blood even safer.

Harm due to delayed treatment

If assessment and treatment of blood loss is deferred it can cause harm to the joints and muscles. It is imperative for individuals with haemophilia to identify the early warning signs of blood loss.

Home treatment

Replacement therapy may be administered at home for both preventative and treatment purposes. A number of individuals learn to carry out the process and there are many advantages to this, including:

• Quicker treatment if blood loss occurs.
• Less trips to the hospital.
• Less expensive than hospital treatment.
• Increased responsibility for children, which allows them to have more independence, better understanding and control of their condition.

If your child suffers from haemophilia you can discuss home treatment at the doctor's office. The physician and care team will provide information and advice about the treatment method. Some people choose to have a vein access device implanted into their arm so it is simpler to access the vein; these can be useful if infusions are required on a habitual basis, though a threat of infection is apparent.

Different treatments

Desmopressin

Desmopressin is a form of synthetic hormone employed to help patients with moderate or mild haemophilia type A (not used for haemophilia type B). Desmopressin encourages the freeing of clotting factor VIII as well as von Willebrand factor, which are stored in the blood vessels to increase the levels of clotting factors in the blood. The von Willebrand factor transports and will bind factor VIII to enable the protein to remain in the blood for longer. Desmopressin is usually injected but it is also available in nasal spray.

Antifibrinolytic drugs

These drugs are used alongside clotting factor treatment and given to prevent the breakdown of clots. Some examples are aminocaproic acid and tranexamic acid. They are commonly used:

• Ahead of dental treatment.
• For mild blood loss in the intestines.
• For nosebleeds and blood loss from the mouth.

What you should expect

Parents who have a child diagnosed with the severe type of haemophilia will find this affects their daily life, and there will be changes and sacrifices they need to make. Your child's care team will be on hand to provide support and advice when your child is first diagnosed and through their childhood and teenager years.

It is completely understandable to feel worried about your child's circumstances and how it will affect their life and other family members'. You may be worried about potential cost, changes you will have to make to your personal and professional life and how the condition will impact other children you have. However, advice and support is available and it is advised to find out as much about the disorder as possible. You can do this in the following ways:

• Talk to your child's doctor and their care team.
• Research haemophilia using books and websites.
• Chat to other parents in a similar situation; there are online forums and community groups.
• Get in touch with haemophilia charities and organisations; this is beneficial for both parents and children.

Ongoing medical needs

In order to prevent complications patients with haemophilia should:

• Follow their doctor's advice.
• Continue treatment according to their doctor's instructions.
• Attend regular check-ups and keep up to date with immunisations (this is especially important for patients who receive blood transfusions).
• Attend regular dental appointments: always ensure that the dentist is aware of your medical history in order to be given treatment to stop blood loss.
• Learn about the symptoms of blood loss and be familiar with the early warning signs, so that treatment can be attained without delay.

It is imperative to seek urgent medical attention in the following instances:

• When bleeding heavily and you cannot stem the flow.
• If a previous wound is oozing blood.
• If you experience signs of blood loss in the brain (life-threatening).
• If you experience limited or restricted movement or pain in your joints.

Haemophilia during childhood

Caring for a child with haemophilia is more difficult as they become active. As well as the regular dental/medical checks and routine immunisations, your child will also require:

• Safe surroundings.
• Education and guidance about their condition.
• Support in coping with the fact that they have a lasting condition.
• A healthy diet and weight.
• Reassurance that the condition is in no way their fault.

As haemophilia increases the risk of bleeding and bruising, children need a very safe home environment. This means that you may need to make some changes to your home, including:

• Encouraging your child to wear protective clothing (such as a helmet or elbow pads) when playing outside or riding a bike.
• Covering sharp corners and edges.
• Keeping corridors and stairways clear.
• Using stair gates when children are small.
• Locking cabinets and cupboards.
• Covering plugs.
• Always strap your child in when they use high chairs, prams or seats.
• Keep sharp items well out of reach.
• Assess areas of play for potential dangers.
• Keep a pack of ice in the freezer to ease bruises.
• Have a bag packed in case you need to attend the hospital.
• Ensure that family members and carers are aware of the symptoms of blood loss and know how to react if they notice the warning signs.
• Ensure that any person caring for your child understands they have haemophilia.
• Think about getting your child an ID bracelet to inform people that they have haemophilia.
• Learn to identify the symptoms of blood loss.

Adolescent haemophilia

Adolescence is a tricky time for most teenagers but can be particularly challenging for those coming to terms with a lifelong condition. It is advisable as children get older to try and give them as much independence as possible, as well as ensuring support and advice is always available. It is beneficial for teenagers with haemophilia to:

• Learn about their condition.
• Be taught to know the signs of blood loss.
• Carry out home infusions (this should be supervised until they can do it independently).
• Exercise regularly in a safe environment (some forms of activity are not recommended).
• Take good care of their gums and teeth and attend regular dental visits.
• Attend regular check-ups with their doctor.
• Eat a balanced, healthy diet.

Physical activity and haemophilia

Exercise has numerous benefits for physical and mental health and should be encouraged in children with haemophilia. However, exercise can increase the risk of injury and certain forms of activity are not recommended. Ask your doctor for advice about which forms of activity are safe for your children to partake in. Most types of activity are suitable for kids and adults suffering with mild haemophilia, while physical sports and activities that carry a high risk of bleeding should be off-limits for those with the severe type of haemophilia. Physiotherapists can draw-up an exercise plan for the individual and suggest suitable activities.

Examples of safe forms of exercise are:

• Swimming.
• Walking and jogging.
• Golf.
• Cycling (always wear a helmet and protective clothing).

Sports that are generally considered inadvisable are boxing, wrestling, football, hockey and rugby.

Medication precautions

Certain medicines thin the blood and amplify the risk of bleeding, so it is vital for individuals with haemophilia to avoid the following medicines:

• Ibuprofen.
• Aspirin.
• Other non-steroidal anti-inflammatory drugs.

Home treatment

Home treatment has a range of benefits, including:

• Increased convenience for patients.
• Quicker treatment.
• Greater independence.
• Fewer hospital visits.
• Greater management of the condition.

If receiving treatment at home it is essential to follow these precautions:

• Follow the instructions for storage and dosage.
• Maintain documentation of medical procedures.
• Be familiar with the symptoms of blood loss.
• Learn the signs of allergic reactions and how to respond.
• Have a person help you with the infusions.
• Know when you need urgent medical help.
• Don't be afraid to get help.

Treatment when travelling

• Ensure you have enough medication with you; always take spare just in case.
• Ensure the people you are travelling with know that you have haemophilia and how to react if you display symptoms of blood loss.
• Ensure you have the contact details for a doctor where you are staying.
• Ensure you know the number for the emergency services.

Education and training

Haemophilia should not affect your ability to finish your education and pursue a career in your chosen industry.

Haemophilia: the key facts

• It is an inherited condition which affects blood clotting.
• Haemophilia most often affects males.
• Haemophilia results from a shortage or absence of proteins known as clotting factors (involved in the clotting process).
• Without clotting factors bleeding can take an extended time to stop, which can lead to permanent harm of the muscles, joints and death.
• Two major forms of haemophilia are known: type A and type B. Individuals with haemophilia type A have a shortage or absence of clotting factor VIII, while those with type B have a shortage or absence of clotting factor IX. Type A is much more common than type B and affects around 9 in 10 people with haemophilia.
• Haemophilia is brought on by a deficiency in the gene containing instructions about the formation of clotting factors. These genes are situated on the X chromosome responsible for determining the sex of a baby.
• Signs of haemophilia are blood loss and bruising, but the severity of symptoms will depend on the condition's severity.
• Internal bleeding can take place in the joints; most commonly, the ankles, elbows and knees.
• It should be treated as an emergency and treatment sought immediately if bleeding occurs in the brain.
• Doctors use blood tests, physical examination and details about the patient's family and medical history to diagnose haemophilia and test results will indicate severity.
• The core treatment is replacement therapy; this involves injecting or infusing clotting factors into the blood.
• Replacement therapy is provided on a continuing or temporary basis. It is used to avert (severe cases) and treat blood loss (mild or moderate cases).
• Early treatment is essential to prevent harm to the joints and muscles.
• Replacement therapy is typically given at home and this is advantageous in many ways, but adults and parents with haemophilia must be trained in how to administer the infusions.
• Exercise is vital for adults and children; however, some sports may be dangerous for individuals with haemophilia. Ask your doctor for advice before taking up a new sport.
• It is beneficial to find out as much about the condition as possible. You can do this by talking to your doctor or joining a group for support, which will allow you to interact with people in a similar situation.