Haemophilia

What is haemophilia?

Haemophilia is a rare inherited blood disorder that affects the ability of the blood to clot correctly during bleeding. This is because the blood has low levels of clotting factors which are specific proteins found in the blood. These clotting factors help the platelets to clot the blood and there are 13 types of clotting factors. In a healthy individual, when you cut yourself, clotting factors cause the blood to clot, going sticky and eventually stopping the bleed. Hence, people with haemophilia will bleed for a lot longer.

There are three types of haemophilia:

Haemophilia A – the most common type, caused by a deficiency in clotting factor VIII. Haemophilia B – caused by a deficiency in clotting factor IX. Haemophilia C – this is a milder form of haemophilia, caused by a deficiency in clotting factor XI.

What is the prognosis of haemophilia?

Haemophilia has no known cure, but treatments can minimise the risk of severe bleeds and avoid potential future complications. Possible complications include:

Severe internal bleeding Neurological symptoms resulting from bleeding within the brain Damage to the joints caused by repeated internal bleeding

What are the symptoms of haemophilia?

Your symptoms will vary depending on the severity of your clotting factor deficiency; in milder cases, a bleed might occur during surgery or following trauma, whereas severe cases might have a major bleed for no particular reason. This is called ‘spontaneous bleeding’.

Symptoms for haemophiliacs can include:

Lengthy nosebleeds and bleeding from wounds Bleeding gums Skin that is bruised easily Stiffness and pain around joints, caused by internal bleeding Blood in the urine Blood in the stool Irritability (usually in children)

How is haemophilia diagnosed?

Blood tests can diagnose haemophilia and how severe it is. Blood is analysed for the various clotting factors present. If there is no known family history of haemophilia, it will usually be diagnosed when a child starts to crawl or walk. Midler cases might not be diagnosed until trauma or surgery.

What are the causes of haemophilia?

Haemophilia results from an inherited genetic mutation and is more common in males. The disease is characterised by deficiencies in certain clotting factors which help the blood to coagulate and stop bleeding.

Can haemophilia be prevented?

As haemophilia is an inherited disorder, there is no way to prevent it. However, if you are conceiving via in vitro fertilisation (IVF), fertilised eggs can be tested for haemophilia before they are implanted.

How is haemophilia treated?

Treatment will depend on both the type and severity of haemophilia. Treatments either aim to prevent bleeding or to treat a bleeding episode.

Haemophilia A – regular injections of an engineered version of clotting factor VIII can be administered to prevent bleeds every 48 hours. If bleeding occurs, injections of desmopressin can be given, which is a synthetic hormone that works by stimulating the production of clotting factor VIII. Haemophilia B – regular injections of an engineered version of clotting factor IX can be given twice a week to prevent bleeds. If a bleed occurs, then further injections of this should be administered.

If you have a child with haemophilia, you will be shown how to administer these injections until they are old enough to learn themselves. If you suffer joint damage as a result of your haemophilia, you may require physical therapy to improve mobility, or eventually joint replacement surgery.

Which type of specialist treats haemophilia?

Haematologists specialise in diagnosing and treating haemophilia.