ASK DR LUVUYO BAYENI | Haemophilia explained: What to know about the bleeding disorder

Haemophilia is usually an inherited bleeding disorder in which blood does not clot properly. It is caused by a mutation, or difference from normal, problem in one of the genes needed to make clotting factors, which are proteins the body uses to form a blood clot. These genes are located on the X chromosome.

This can lead to spontaneous bleeding (bleeding that occurs for no known reason) and bleeding after injuries or surgery. The most common types of haemophilia are inherited and are present from birth. In rare cases, a person can develop haemophilia later in life.

This is known as acquired haemophilia. Most acquired haemophilia cases occur in middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy. Other conditions associated with acquired haemophilia include autoimmune conditions, cancer, multiple sclerosis and drug reactions.

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This condition often resolves with appropriate treatment. Blood contains many proteins called clotting factors that can help to stop bleeding. People with haemophilia A or B have low levels of either factor VIII (8) or factor IX (9), respectively.

The lower the amount of the factor, the more likely that bleeding will occur, which can lead to serioushealth problems. Bleeding within or into joints that can lead to chronic joint disease. This can present with swelling and pain or tightness in the joints, which often affects the knees, elbows and ankles.

Somepatientsmay present with bleeding into the skin (large and deep bruising) or muscle and soft tissue, causing a build-up of blood in the area, called a haematoma. This is regardless of the magnitude or severity of trauma to the affected area. Infants may have bleeding in the head after difficult delivery.

Unfortunately, some of the head bleeding may be concealed or in the brain, which can cause long-term problems such as seizures and paralysis. Some mothers have reported observing their babies with localised unusual bleeding after having shots such as vaccinations. A number of patients report bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.

Frequent and hard-to-stop nosebleeds have also been reported, as well as blood in urine or stools. Uncontrolled bleeding after circumcision is also suspicious. Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain. Reports indicate internal bleeding can damage organs and tissues and can be life-threatening.

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