Haemophilia awareness

Overview

Haemophilia is a rare bleeding disorder where the blood does not clot properly because it lacks certain proteins called clotting factors. This means that even a small cut can bleed for a long time, and bleeding inside the body (like in joints or muscles) can happen without an obvious cause.

No, haemophilia is rare. It affects about 1 in 10,000 people worldwide.

Haemophilia almost always affects males, because the gene change is on the X chromosome. Females can be carriers and may have mild symptoms, but they rarely have severe haemophilia.

Symptoms

Common symptoms

• Easy bruising – large or deep bruises from minor bumps.
• Prolonged bleeding from cuts, dental work, or surgeries.
• Spontaneous bleeding into joints (especially knees, elbows, and ankles) causing pain and swelling.
• Bleeding into muscles causing swelling and stiffness.
• Blood in urine or stool.

Symptoms in children

• Excessive bruising when learning to crawl or walk.
• Prolonged bleeding after a fall or a small injury.
• Unexplained irritability or crying due to joint or muscle bleeding.
• Bleeding from the mouth after losing a baby tooth.

Symptoms in older adults

• More frequent joint bleeding because of age-related wear and tear.
• Bleeding after falls or other injuries that may be harder to control.
• Bleeding from procedures like joint replacements or dental extractions.

Causes

Main causes

• Haemophilia is caused by a change (mutation) in a gene that tells the body how to make one of the clotting factors. This gene is on the X chromosome, so the condition is inherited in an X-linked recessive pattern.

Risk factors

• Having a family history of haemophilia.
• Being male (males have only one X chromosome, so a single faulty gene causes the condition).
• In rare cases, the gene change can happen spontaneously (new mutation) with no family history.

When to see a doctor

See a doctor urgently if:

• If you or your child has a head injury, call emergency services immediately.
• If you have a joint that is very painful, swollen, and hot to the touch.
• If bleeding from a cut does not stop after applying firm pressure for 10 minutes.

Book a routine appointment if:

• If you notice easy bruising or prolonged bleeding after minor injuries, see your GP.
• If you have a family history of bleeding disorders and are planning a pregnancy, speak to a genetic counsellor.
• For regular check-ups with a haematologist (a doctor specialising in blood disorders).

Diagnosis

Your doctor will take a detailed personal and family history and perform blood tests to measure clotting factors.

Tests that may be done

• Complete blood count (CBC) to check for anaemia from blood loss.
• Clotting tests – such as prothrombin time (PT) and activated partial thromboplastin time (APTT) – that show if blood clotting is slower than normal.
• Specific clotting factor assays to measure the levels of factor VIII (for haemophilia A) or factor IX (for haemophilia B).

What to expect at your appointment

Blood tests are done in a clinic or hospital, and results usually come back within a few days. If the tests confirm a low level of a clotting factor, you will be referred to a haematologist for ongoing care.

Treatment

Treatment focuses on replacing the missing clotting factor to prevent or stop bleeding. The specific type and dose of treatment depend on the severity of your haemophilia, your weight, and the location of the bleed. Treatment is individualised and managed by a specialist team.

Self-care at home

• Apply firm, direct pressure to any bleeding cut for at least 10 minutes without peeking.
• Rest and elevate the bleeding area if possible.
• Avoid taking pain relievers that contain aspirin or ibuprofen, as they can worsen bleeding. Paracetamol (acetaminophen) is usually safe, but check with your doctor.
• Wear a medical alert bracelet or carry a card that states your condition.

Medical treatments

Medical treatment includes intravenous infusion (drip) of clotting factor concentrates to raise the level of the missing factor. These can be given on demand (when a bleed happens) or as prophylaxis (regular infusions to prevent bleeds). Another approach is a medication called desmopressin (for mild haemophilia A) that helps the body release stored factor VIII. All treatments require a doctor's prescription and careful monitoring.

When is surgery considered?

If you need surgery, you will work closely with your haematologist to plan ahead. Extra clotting factor will be given before, during, and after the procedure to prevent excessive bleeding. Minor procedures like dental work may also require a ‘cover’ of factor replacement.

Living with this condition

Living with haemophilia means learning to manage bleeds promptly and prevent injuries. Most people learn to recognise early signs of a bleed (like a tingling feeling in a joint) and treat it quickly. Regular check-ups with your haematologist are essential.

Lifestyle tips

• Avoid contact sports like rugby, boxing, and martial arts. Instead, choose low-impact activities such as swimming, cycling, walking, or golf.
• Wear protective gear like helmets and pads when cycling or skating.
• Keep a ‘bleed kit’ at home with supplies your doctor recommends.
• Tell teachers, employers, and close friends about your condition so they know what to do in an emergency.

Diet and exercise

A balanced diet helps maintain a healthy weight, which reduces stress on joints. Regular, gentle exercise strengthens muscles around joints and lowers the risk of spontaneous bleeds. Activities like swimming and yoga are excellent choices. Always warm up before exercise and avoid overexertion.

Mental health and emotional wellbeing

Living with a chronic condition can be emotionally challenging. You may feel anxious about bleeds, frustrated by limitations, or isolated. It's important to talk to your healthcare team or a counsellor if you feel overwhelmed. Many people find support groups helpful.

Prevention

Haemophilia itself cannot be prevented because it is genetic. However, genetic counselling and prenatal testing can help families understand their risk. For those who have haemophilia, regular prophylactic treatment can prevent most bleeds and joint damage.

Vaccines

People with haemophilia should receive recommended vaccines, but it's important to use a small needle and apply pressure afterwards to prevent bruising or bleeding. Some vaccines may be given under the skin instead of into the muscle. Discuss the best approach with your doctor.

Screening programmes

If there is a family history of haemophilia, screening can be done on newborn babies (by testing blood from the umbilical cord) or during pregnancy through chorionic villus sampling or amniocentesis. These tests involve risks and are discussed with a genetic counsellor.

Complications

If left untreated

• Chronic joint damage and arthritis from repeated bleeds into the same joint (target joints).
• Muscle contractures (tightening) that limit movement.
• Bleeding in the brain after a head injury, which can be life-threatening.
• Anaemia from chronic blood loss.

Long-term outlook

The outlook for people with haemophilia is excellent when treated early and regularly. With modern clotting factor replacement, most people can prevent joint damage and lead full, active lives. Research continues to improve treatments, including gene therapy, which holds great promise. Your healthcare team will help you every step of the way.

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