Every year April 17 is world hemophilia day. This year special attention is paid to dissemination of information about the disease.
What is hemophilia?
Hemophilia – a hereditary blood disease characterized by the violation of its clotting. This is due to deficiency in the blood of certain proteins called clotting factors. Depending on which of the factors is not enough, there are different types of hemophilia – hemophilia types A and b are the most common.
These types of diseases transmitted through the female line, and are they mostly men. According to who statistics, every five thousand boy in the world is born with hemophilia type A. About a quarter of cases, hemophilia is caused by a spontaneous mutation – the disease appears in a child whose parents are not carriers of the defective gene.
What is hemophilia?
Patients with hemophilia suffer an increased risk of bleeding: the slightest bumps can cause the formation of large bruises, and surgery or dental procedures can cause severe bleeding. In hemophilia affects the joints of the hands and feet are swelling, difficult movement.
How to treat hemophilia?
One and a half to two centuries ago people with hemophilia were doomed – they suffered from constant bleeding and often did not survive to adulthood, dying in his youth from complications.
The cause of the disease – lack of blood clotting factors became clear in the second half of the 20th century. Then scientists have proposed to transfuse patients concentrates of the missing clotting factors. In those years, the therapy was associated with risk of hepatitis infection – thousands of people died from viral infections.
To solve the problem failed after the emergence of recombinant – artificial clotting factors. Their use helped to minimize the risk of HIV infection and hepatitis. Patients with hemophilia have a daily injections of the necessary clotting factors.
Is it possible to do without daily injections in hemophilia?
Until recently, the main strategy of pharmaceutical companies was the creation of pure preparations of blood clotting factors. The rejection of daily injections was not anticipated, but such treatment is quite painful for patients, most of whom are children.
The new strategy proposed by researchers in recent years has been the development of new drugs that you can inject less frequently. This may be due to increased stability of recombinant proteins and the fact that they can last much longer circulate in the blood.
Is it possible to opt out of injections?
Now researchers are testing two new concepts. One research group suggests that instead of injections daily make the clotting factors in tablets and the other believes that the solution may be gene therapy, whose effectiveness has already been tested on patients.
Once injected into the body of patients with hemophilia a specially designed genetic vaccines helped in severe form of the disease and the disease of moderate severity. People were able to give marks for the whole year, which significantly simplified their lives.
Phase III clinical trials in which you want to find the ideal dose for gene therapy began in December 2017. Studies are still ongoing, but scientists hope that this experiment will be able to confirm the effectiveness of this therapy.