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Information You Should Know
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Haemophilia
Haemophilia is a lifelong, inherited bleeding disorder.
In haemophilia, one of the clotting factor proteins required for blood clotting is either partly or completely missing. There are two types of haemophilia:
- Haemophilia A, which is a deficiency of factor VIII (8)
- Haemophilia B (also known as Christmas Disease), which is a deficiency of factor IX (9)
Both conditions are much more common in males and are inherited in a similar way. Symptoms are identical – affected individuals take longer than normal for bleeding to stop. They may have bleeding into joints and muscles either following minor injury, or without any previous injury at all.
Haemophilia is classified as severe, moderate or mild depending on the level of factor VIII or factor IX in the blood. The level of clotting factor is measured by specialist blood tests. In general, the lower the level, the more bleeding problems the individual will have without treatment.
Treatment depends on which clotting factor is missing. Different types of treatments are available and may vary depending on how severe the condition is. Treatments include:
- Clotting factor concentrates
This treatment involves the replacement of the missing clotting factor in the blood through an infusion of clotting factor concentrate. Treatment is given intravenously (into a vein) into the bloodstream, usually through a butterfly needle. The goal of treatment is to prevent or reduce bleeding.
Most people with haemophilia learn to treat themselves/their children with clotting factor at home.
- Subcutaneous treatment
Emicizumab is a subcutaneous (under the skin) treatment used to prevent or reduce bleeding in people with severe haemophilia A. It is an antibody which mimics the action of factor VIII. It is not suitable for treatment of bleeds, serious injury or major surgery, in which case factor VIII concentrates would be necessary.
Bleeding episodes must be treated as soon as possible in order to relieve pain quickly, shorten recovery time and reduce the chance of permanent damage.
Inhibitors
An inhibitor is an antibody that prevents factor replacement treatment from working. When an inhibitor develops, it binds to factor concentrates such as factor VIII or factor IX, stopping them from working and making bleeding more difficult to treat.
Inhibitors occur in 9% and 30% of those with mild/moderate haemophilia A and severe haemophilia A respectively. Only 3% of those with haemophilia B develop inhibitors. In very rare cases, people with other bleeding disorders can also develop inhibitors.
Inhibitors are treated with immune tolerance induction; this involves regular exposure to factor treatment with the aim of the body becoming accustomed to the clotting factor.
Von Willebrand Disorder
Von Willebrand disorder, also known as von Willebrand disease (VWD), is another bleeding disorder that affects the blood’s ability to clot. People with VWD have low levels of a protein involved in blood clotting, known as von Willebrand factor (VWF). Alternatively, their VWF doesn’t work very well, so it takes longer for bleeding to stop. Symptoms may include easy bruising, nosebleeds, and heavy periods. It may also be hard to stop bleeding after injury or surgery.
vWD is the most common inherited bleeding disorder in Malta. It affects males and females equally, though women may experience more problems linked to periods, pregnancy and childbirth.
For most people with VWD, the disorder causes little or no disruption to their lives except when there is a serious injury or need for surgery. However, with all forms of VWD, there can be bleeding problems, and in occasional severe cases, internal bleeding to muscles and joints can occur in a similar way to haemophilia.
Other Rare Bleeding Disorders
There are several other rare bleeding disorders. As many as a third of bleeding disorder diagnoses have no known family history and can be the result of a random gene mutation. This means a bleeding disorder diagnosis can come completely out of the blue. In addition, many people with a bleeding disorder are undiagnosed, or are diagnosed late, because of a lack of understanding about these rare conditions
Treatment Centre
The national treatment centre for bleeding disorders in Malta is Mater Dei Hospital. This centre provides 24-hour specialist diagnosis and care.
It has been accredited as a European Haemophilia Treatment Centre and currently delivers care to around 100 patients with bleeding disorders.
Individuals diagnosed with bleeding disorders who wish to receive care at Mater Dei Hospital, should be referred to the Coagulation service within the Department of Oncology and Haematology.
Individuals needing urgent medical assistance should attend the Emergency Department at Mater Dei Hospital, where they will be able to receive necessary products following discussion with the Coagulation service.
Treatment for Maltese individuals and European nationals is free.
Travel
Individuals on home treatment who travel abroad are usually advised to pack their usual treatment with them and administer it themselves. In cases of emergency, one would need to attend the nearest haemophilia centre.
The Haemophilia Centre Locator website can be used to identify the nearest European Haemophilia Treatment Centre.