Symptoms and diagnosis

Symptoms of haemophilia can include:

  • Bleeding into joints, muscles or soft tissues (sometimes without an obvious injury).
  • Prolonged bleeding after cuts, bites or minor surgery (e.g. tooth extraction or circumcision).
  • Bruising on the surface of the skin.
  • Blood in the urine.

Although some of these symptoms may be more obvious and distressing, it is the joint and muscle damage that can develop over time as a result of frequent bleeds that can cause significant long-term issues. If haemophilia is not treated properly, over time the muscles and joints can get so damaged that mobility can be affected. That’s why it is so important to treat haemophilia and undergo rehabilitation (with physiotherapy) after bleeds.

Symptoms can me mild, moderate or severe

Haemophilia symptoms may be mild, moderate or severe depending on how much clotting factor your body makes. Symptoms such as prolonged bleeding may not appear until later in life in mild haemophilia, and are often not seen until an accident or surgery. In contrast, people with moderate to severe haemophilia usually begin to experience symptoms in early childhood when they are learning to crawl or walk. Bleeding into the joints and muscles can occur after a minor knock or bump, leading to painful, hot, swollen joints.

Where in the body does bleeding commonly occur?

The most common areas of bleeding in a person with haemophilia are the joints and muscles of the arms and legs. Less commonly, bleeds may occur in the brain.

How is haemophilia diagnosed?

A diagnosis of haemophilia can only be made after careful consideration of a person’s medical history in combination with results from a number of blood tests. These blood tests assess the ability of the blood to clot, as well as determining blood levels of specific clotting factors.

In general , haemophilia may be suspected if a person presents with a history of:

  • Easy bruising in early childhood.
  • Spontaneous bleeding into joints and muscles.
  • Excessive bleeding after trauma or surgery.

In addition, a family history of bleeding is present in about two-thirds of people with haemophilia.

Haemophilia – the ‘royal disease’

You may have heard haemophilia being referred to as the ‘royal disease’. This is because Queen Victoria, who was the monarch of the United Kingdom in the 1800s, was a carrier of the disorder. She passed the condition on to her son Leopold. Several of her daughters were also carriers and they passed on the faulty gene to other royal families in Spain, Germany and Russia.

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