Haemophilia & Thrombophilia

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 haemophilila 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.

Thrombophilia is a very broad term, and it includes all those conditions in which a person is predisposed to excess clotting. This can happen for a number of reasons:

• excess clotting factors
• excess platelets
• deficiencies in natural anticoagulants

In addition to natural or inherited clotting abnormalities, certain medical conditions can lead to excess clotting. Cancer, heart disease due to high blood cholesterol, and certain combinations of drugs can make people's blood more prone to clot than normal.

On rare occasions, people have a natural deficiency of specific blood proteins that prevent excess clotting, such as anti-thrombin III, protein C or protein S. These deficiencies are very hard to treat effectively, and many of these patients are severely damaged by the effects of excess clotting during fetal development.

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 of haemophilia 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.

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