Haemophilia

The information provided is not intended to be a substitute for professional medical advice. A licensed healthcare professional should be consulted for diagnosis and treatment of any medical conditions.

Haemophilia is a rare genetic blood clotting disorder that primarily affects males. People with haemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. People with haemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time and may suffer from spontaneous internal bleeding.

The two most common forms of haemophilia are haemophilia A and haemophilia B. In people with haemophilia A (also called "classic haemophilia", clotting factor VIII is either not present in sufficient amounts or is absent altogether. In people with haemophilia B (also called "Christmas disease"), clotting factor IX is not present in sufficient amounts or is absent altogether. The majority of people who have haemophilia are male and have inherited the disease. Women can be "carriers" but do not generally have haemophilia themselves. Although it is a genetic disorder, in as many as 30% of cases, there is no family history of haemophilia. In these cases, the mother may carry the gene for haemophilia without being aware of it, or a gene mutation may have occurred spontaneously.

The usual treatment for haemophilia is replacement of the missing clotting factor to control or prevent bleeding.

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Historically, routine treatment has involved injecting clotting factor to treat a bleeding episode, or for controlling bleeding during surgery. One potential drawback is that some bleeds may be small and are not noticed, yet may still do damage. Delay in treatment can also be damaging. Typically this damage is most obvious in joints, and manifests as arthritis (haemophilic arthropathy). For many older patients, born before the development of modern methods of treatment, this has led to serious joint damage and the need for joint replacement.

Prophylaxis has been introduced in order to combat the disadvantages of on-demand treatment. In prophylaxis, infusions are given regularly in order to prevent bleeding episodes, rather than treating them. By infusing clotting factor regularly, the aim is to keep the level in the blood high enough to prevent bleeding. The other major advantage of prophylaxis is that it allows patients to take control of their condition and treat themselves at home, rather than making regular visits to hospital.

Factor IX remains in the circulation for longer than factor VIII so in haemophilia A, infusions are typically given three times a week, and in haemophilia B normally twice a week.

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The most significant advances in haemophilia treatment have been made in the last four decades. Baxter Healthcare Corporation introduced the first commercially available plasma-derived factor concentrate in the mid 1960s. This was a major advancement over earlier therapies, which contained much lower concentrations of antihaemophilic factor.

In the early 1970s, home treatment became widely available, offering people with haemophilia greater independence and reduced hospital stays.

Recombinant DNA technology and the discovery of the genes that control production of factor VIII and factor IX have led to the development of recombinant factor concentrates that are not produced from plasma at all. (Patients should discuss with their physicians which factor replacement therapy is best for them.)

What´s next? Gene therapy. Research is actively under way to develop a safe and effective gene replacement therapy. This therapy will aim to replace the missing or deficient gene that has the instructions for producing clotting factor, reducing or eliminating the need for factor replacement therapy.

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At Baxter, we´ve been supporting haemophilia care for many years at the forefront of innovation in therapy.

• 1966 - First factor VIII concentrate available from Baxter
• 1979 - Baxter introduces the first anti-inhibitor coagulant complex for people with inhibitors to factor VIII
• 1983 - Baxter introduces first heat-treated factor VIII concentrate available in the United States
• 1987 - Baxter pioneers the first human clinical trials of a recombinant factor VIII concentrate
• 1988 - Baxter introduces the first monoclonal purified factor VIII concentrate with solvent/detergent viral inactivation
• 1992 - Baxter introduces the first recombinant, non-plasma-derived factor VIII concentrate
• 1999 - Baxter introduces the first recombinant protein free factor IX concentrate into Europe
• 2001 - Baxter introduces the first Protein C concentrate
• 2003 - Baxter introduces in the United States a new category of recombinant factor VIII
• 2004 - Baxter introduces in Europe a new category of recombinant factor VIII
  
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• Haemophilia and you