14083 Hemophilia

Overview

Hemophilia is a rare bleeding disorder in which the blood does not clot properly because it is missing certain proteins called clotting factors. This means that a person with hemophilia may bleed for longer than usual after an injury, and in some cases may bleed inside the body without a clear cause.

No, hemophilia is rare. It affects about 1 in 5,000 to 10,000 people worldwide. Hemophilia A is more common than hemophilia B.

Hemophilia mostly affects boys and men, because it is linked to a gene on the X chromosome. Women can carry the gene and may have mild symptoms, but it is rare for a woman to have severe hemophilia. It affects people of all races and ethnic backgrounds.

Symptoms

Common symptoms

• Bleeding that lasts a long time after a cut or injury
• Large or deep bruises
• Bleeding into joints, causing swelling, pain, or stiffness
• Bleeding into muscles, causing swelling or warmth
• Unexplained nosebleeds
• Blood in urine or stool

Symptoms in children

• Bruising easily when learning to crawl or walk
• Swollen, tender joints, especially the knees, ankles, or elbows
• Bleeding after a minor fall or bump to the head
• In babies, bleeding after circumcision or from the umbilical cord

Symptoms in older adults

• Joint damage over time may cause long-term pain or reduced mobility
• Bleeding may be more severe if the person also takes blood-thinning medicine
• Surgery or invasive procedures may carry a higher bleeding risk
• Falls are a greater concern because internal bleeding may not be obvious at first

Causes

Main causes

• Hemophilia is caused by a change in a gene that helps the body make clotting factors.
• The gene is passed down from parents to children, but in about 1 in 3 cases it occurs with no family history, due to a new genetic change.
• In rare cases, hemophilia can be acquired later in life when the immune system attacks clotting proteins, but this is not inherited.

Risk factors

• Having a family history of hemophilia
• Being male
• Carrying the gene for hemophilia without having symptoms (in women)

When to see a doctor

See a doctor urgently if:

• If you or your child experiences prolonged bleeding from a cut or injury
• If you notice a swollen, painful joint after a minor bump
• If bleeding occurs without any clear cause
• If you are pregnant or planning a pregnancy and have a family history of hemophilia

Book a routine appointment if:

• If you have a family history and want to know your carrier status
• If you or your child have easy bruising or frequent nosebleeds and are concerned
• For regular check-ups with a hemophilia treatment centre if you already have the condition

Diagnosis

Doctors diagnose hemophilia by taking a detailed medical and family history, doing a physical examination, and testing blood samples. These tests measure how well the blood clots and how much of each clotting factor is present.

Tests that may be done

• Blood tests to check how long it takes blood to clot
• Clotting factor tests to measure the level of factor VIII (hemophilia A) or factor IX (hemophilia B)
• Genetic testing to confirm the gene change and help family members understand their risk

What to expect at your appointment

If a doctor suspects hemophilia, they will usually refer you to a specialist. The specialist may order more blood tests and, if the diagnosis is confirmed, will explain what it means for you or your child. You will probably be offered regular care through a haemophilia treatment centre, where a team of experts can support you.

Treatment

There is no cure for inherited hemophilia yet, but it can be managed very effectively. Treatment focuses on stopping or preventing bleeds, protecting joints, and helping people live as normally as possible. Modern treatments are given by trained specialists, and many people are able to treat bleeds at home with appropriate training.

Self-care at home

• Apply pressure to minor cuts and wounds for several minutes to help them clot
• Use ice packs on bruises or sore joints to reduce swelling, but wrap them in a cloth and avoid direct contact with skin
• Practice good dental care to avoid bleeding gums and the need for tooth extractions
• Wear protective gear like helmets and knee pads during activities with a risk of falls or injury
• Avoid medicines such as aspirin and other blood thinners, unless your doctor specifically approves them

Medical treatments

Treatment usually involves replacing the missing clotting factor so the blood can clot properly. This may be given on a regular schedule to prevent bleeds, or at the time of a bleed. Some newer treatments work by helping the blood form stronger clots without replacing the missing factor directly. All treatments must be prescribed and managed by a specialist haemophilia team. Some people may also need physiotherapy to support joints and muscles after a bleed.

When is surgery considered?

If a person with hemophilia needs surgery or a dental procedure, the haemophilia team will make a plan beforehand to reduce bleeding risk. This often involves giving extra clotting treatment around the time of the procedure.

Living with this condition

Living with hemophilia means being aware of risks, but it does not mean staying away from normal life. Many people with hemophilia go to school, work, play sports, and raise families. Regular exercise, good planning, and a strong support team make it easier to stay safe and active.

Lifestyle tips

• Stay active to keep joints strong, but choose safer activities like swimming, walking, cycling, or golf
• Avoid contact sports like rugby, boxing, or wrestling unless your specialist team says it is safe
• Tell coaches, teachers, and close friends about your condition and what to do in an emergency
• Wear a medical alert bracelet or carry a treatment card
• Get regular check-ups with your haemophilia treatment centre

Diet and exercise

A balanced, healthy diet supports strong bones and muscles. Exercise is important, but it should be low-impact and tailored to your abilities. If you have joint problems, physiotherapy can help you find safe exercises that protect your joints while keeping you fit.

Mental health and emotional wellbeing

Living with a chronic condition can sometimes feel stressful or isolating. It is normal to feel anxious about bleeding, treatments, or the future. Talking to a counsellor or psychologist, joining support groups, and staying connected with family and friends can all help. If you are feeling overwhelmed, reach out to your healthcare team or a mental health professional.

Prevention

Inherited hemophilia cannot be prevented, because it is in a person's genes. However, many bleeding episodes can be prevented with careful planning and, for some people, regular treatment. If you have a family history of hemophilia and are thinking about having children, genetic counselling can help you understand your options.

Vaccines

People with hemophilia should have the usual childhood vaccines, but some vaccinations are given by injection into a muscle and may need to be done carefully to avoid bleeding in the muscle. Talk to your doctor or haemophilia team about the safest way to receive any vaccine or injection.

Screening programmes

Newborns may be tested for hemophilia if there is a known family history. In some countries, a blood spot test is part of newborn screening. Genetic testing can also identify carriers in the family, which may be helpful before pregnancy. If you are concerned, ask your doctor about your testing options.

Complications

If left untreated

• Repeated bleeding into joints can damage the joint and cause long-term pain and difficulty moving
• Bleeding inside the body, such as into the brain, can be serious and life-threatening
• Bleeding into muscles or internal organs can cause severe pain and loss of function
• Anemia can develop if bleeding is frequent or heavy

Long-term outlook

The outlook for people with hemophilia is much better than it was in the past. With modern treatment and good care, most people live long, full lives, with fewer bleeds and less joint damage. The key is to work closely with a specialist team, follow a personalised care plan, and get help quickly when bleeding occurs. Many people with hemophilia go on to achieve everything they want in life.

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