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Biotechnology for
Haemophilia (2005)
The disease
Haemophilia is a genetic disorder which in general only affects boys and is characterized by repeated haemorrhages due to poor blood coagulation. It is the consequence of a deficiency in the "factors" involved in the coagulation process. In more than 80% of haemophilias, it is a deficiency in Factor VIII (haemophilia A).
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How many people are affected ?
Five to six male infant haemophiliacs are born per annum per 100,000 births and there are approximately 50,000 haemophiliacs in Europe and the United States.
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How many people die from the disease?
Currently updated...
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Living with the disease
Without treatment, which is the case in developing countries, and when the deficiency is severe, haemophiliacs die very young, even before they can be diagnosed. Most haemophiliacs have repeated haemorrhages, often spontaneous, between joints, in muscles, in viscera and even cerebral bleeding.
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Treatment
Témoignage patient de
Traditional approach
Modern treatment of haemophilia began in the 1960’s when the first FVIII plasma concentrates became available. Patient life expectancy and quality of life saw an unprecedented improvement. But these concentrates were also the origin of the infection of numerous patients with the HIV virus (in France, 50% of haemophiliacs were infected between 1980 and 1985) and with the hepatitis B and C viruses (80% of haemophiliacs were infected by the hepatitis C virus before 1987).
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Biotech revolutions
The first recombinant FVIII (rFVIII) products, produced artificially, without recourse to human blood, using the techniques of biotechnology, were put on the market at the beginning of the 1990’s. Recently rFVIII products in which no animal or human proteins are used in the production process have been made available, thus cancelling out the risk of infection from pathogens. Nowadays, haemophiliacs lead a practically normal existence outside of bleeding episodes.
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Drugs currently available
Recombinant FVIII is an industrially produced protein which is then placed in medical preparations. Plasma concentrates, heated and purified to eliminate viral infection to a maximum, still remain available.
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Number of patients treated
All moderate and severe haemophilia A patients (from 0 to 5% of activity in FVIII) are strictly dependant on FVIII. The choice between rFVIII and plasma concentrates varies according to country and to treatment centre. In France, more than 3,000 patients (i.e. 80% of haemophilia A patients) are treated with recombinant FVIII. Globally, 40% of haemophiliacs are treated with recombinant FVIII.
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Future
Efforts are essentially being placed on decreasing the risk of occurrence of anti-FVIII inhibitor, the principal complication in the treatment of severe haemophilia cancelling the treatment benefit, and on reducing production costs.
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Costs to society
In France the price of one FVIII unit (plasma-derived or recombinant) is approximately €0.8. Treatment of haemarthrosis requires the administration of 20 to 30 units per kilo of body weight, i.e. for a 30kg boy a cost of €480 to €720 (600 to 900 units). If this boy was to have 20 to 30 bleeding incidents, annual FVIII cost would be from €9,600 to €21,600 per annum (12,000 to 27,000 units). For the same child, preventive treatment would cost €117,000.
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