Hemophilia in Russia
Treatment of Tsarevich Alexei's disease in the XXI century
Maria Tatsenko, RIA Novosti
World Hemophilia Day is celebrated on April 17. Yuri Zhulev, President of the All-Russian Society of Hemophilia, co-chairman of the All-Russian Union of Patients, spoke about the features and diagnosis of the disease, the problems that patients face in everyday life, personal experience of treatment and progress in the treatment of hemophilia in Russia.
Photo from the personal archive of Yuri Zhulev
– What is hemophilia?
– Hemophilia manifests itself in bleeding, to put it simply, in poor blood clotting. The first thing you need to know is a hereditary disease that is transmitted through women, and boys suffer from it. Such is the specificity. But according to the latest research by geneticists, up to 30% of boys born with hemophilia is a so–called spontaneous mutation.
The classic transmission of a gene is through the carrier of a broken gene. Or it may happen that this gene has broken down in a man's sperm or in a woman's egg, that is, it is a spontaneous, new mutation. This gene can break down in any woman or man, it will be passed on to their child. This will be the first case in the family.
Therefore, an important point is to convey that such a child can be born, unfortunately, in any family.
The next myth: hemophilia is only boys. It's both yes and no. Technically, yes. But informally there are girls and women who suffer from Willebrand's disease, they have bleeding – this is a very long period. They go to the gynecologist, drink some pills, herbs, but in fact they have one of the forms of Willebrand's disease, which may need to be stopped by more serious medications that are used in the treatment of hemophilia.
The issue of diagnostics is very serious here. Willebrand's disease and hemophilia, unfortunately, are not always diagnosed, especially Willebrand's disease. Women suffer from bleeding, and no one will think to send them to a hematologist and do a very deep analysis, a blood test to identify the cause of this bleeding.
Diagnostics and statistics
– How does classical hemophilia manifest itself?
– A broken gene in patients with hemophilia is responsible for the production of a special blood protein, it is called "blood clotting factor". When healthy people have some kind of cut, injury, that is, the mechanism of blood clotting, which consists of different proteins, which at the right moment begin to cascade - they seem to cling to each other, and a blood clot forms, which stops bleeding. In a patient with hemophilia, since there is no one protein, this chain breaks.
– At what age can hemophilia be diagnosed and what should parents pay attention to?
– For example, in the maternity hospital, a patient with hemophilia may open up so-called umbilical bleeding. This is already a very serious sign that the child is not all right with blood clotting and it is necessary to consult a pediatric hematologist.
In more adult age, these are permanent bruises on the body that arise from seemingly minor injuries. When the child grows up, begins to move actively, he begins to have bruises and bruises. And most importantly, he begins to hemorrhage in the joints. The joint becomes hot, it swells, pain occurs.
There is such a paradox: it seems to be a blood disease, but the joints suffer, because they are destroyed due to frequent bleeding into the joints.
In a healthy person, this cannot happen, because the bleeding stops immediately. In a patient with hemophilia, blood enters the joint, into the joint bag. There are mechanisms of the body that absorb this blood, but, unfortunately, cartilage and bones dissolve together with the blood. That is why I personally walked on crutches at the age of seven, because there was no treatment. If a patient with hemophilia is not treated, then his joints will eventually collapse.
The most famous patient with hemophilia in our country is Tsarevich Alexei. There is a very interesting photo: he is standing on one leg in a hussar suit, and his other leg is on a stand. In fact, this is due to the fact that at that moment he had a hemorrhage in the knee joint and he could not straighten his leg even, it is reliably known.
And finally, the strength of the coagulation system is precisely checked when baby teeth fall out. In a patient with hemophilia, this is always accompanied by severe bleeding. If it is not stopped, it can go on for days. These are the main signs in childhood.
– How many patients with hemophilia are in Russia today?
– In total, there are a little more than 9 thousand patients in the register of the Ministry of Health, and there should be, according to WHO, somewhere 12-15 thousand patients. This is precisely because of the poor diagnosis: people live with this disease and do not know. The fact is that there are three forms of hemophilia: severe, medium and light. And there is a gap between the severe form and the mild form. With a light uniform, we had war veterans, pilots. A mild form can manifest itself only with some kind of injury, during a surgical operation. Roughly speaking, a person can live his whole life and not even suspect that he has a mild form of hemophilia or Willebrand's disease.
– How many people are born with this disease?
– If we talk about classical hemophilia A, then this is 1 per 10 thousand of the population, or 1 boy is born for 5 thousand boys.
A reason for pride
– What is the situation with the treatment of hemophilia in Russia?
– I believe that our country has something to be proud of in the field of hemophilia treatment, because we have achieved tremendous results.
Previously, the situation was like this: if you do not treat a patient with hemophilia, disability already occurs somewhere by the age of 12. Children walk on crutches, some even [move] in wheelchairs. The major major joints have already been destroyed. The average age of patients with hemophilia was no more than 30 years. En masse, everyone was infected with hepatitis C through old drugs, because blood preparations were injected, almost whole blood.
With modern adequate treatment, disability of patients is no more than 5-10%. Life expectancy should not differ from [life expectancy] of healthy people in general. Thanks to modern medicines, there are practically no patients with hemophilia infected with hepatitis C at the age of 20. Joint lesions are minimal or there are none at all. Almost all patients with hemophilia go to ordinary schools, institutes, work, of course, have families. A significant number of patients with hemophilia are employed.
The hemophilia treatment program began in 2005. The situation has changed radically: from the state when it was a verdict, to the state when some families are already going to the birth of a second child, without thinking whether he will have hemophilia or not.
To be honest, I am proud of our country in this part. From a state of perfect vegetationism, we have reached the level of developed European countries.
Modern treatment
– What is the modern treatment?
– We have to introduce a special protein into the body, and then the blood clotting mechanism works normally. This medicine must be administered intravenously, and the patient with hemophilia introduces it independently. Nurses have been teaching children to inject since they were 8 years old. From the age of 12, on average, children already begin to inject themselves under the supervision of their parents.
– Is the injection done after the bleeding or according to the schedule?
– There are two types of treatment. The so-called treatment after bleeding is good because it stops the bleeding in time, but, unfortunately, the blood has already, most often, got into the joint, and therefore there will still be a certain destruction of the joint with this type of treatment.
And there is another type of treatment: the medicine is administered regimenally. Thus, the content of this drug in the blood does not fall below a certain level. This allows you to stop spontaneous bleeding.
Drugs are made either from donated blood, or these are so-called recombinant, genetically engineered drugs, they are made from the cell mass that produces protein.
We have Russian drugs for the treatment of hemophilia, and they are being used quite actively now. All manufacturers work with us, they inform us about the safety and effectiveness of the drug. I personally participated in a clinical trial of one of the drugs, and as a patient I can say that it worked great for me.
– How expensive are these drugs and do patients have benefits for them?
– All treatment of patients with hemophilia is free. Recipes are different. They can cost 100, 200, 500 thousand a month. This is a very expensive disease. My personal recipe costs about 150-200 thousand rubles a month. All this is implemented within the framework of the federal program "Seven Nosologies". The Ministry of Health of Russia buys these drugs, then they are delivered throughout the country, and patients receive medicines free of charge by prescription in pharmacies.
A very important point is that a patient with hemophilia receives the right to preferential medicines upon the fact of the disease from the moment of diagnosis. Treatment takes place regardless of whether he has the status of a disabled person or not.
Opportunities and obstacles
– What problems do patients with hemophilia face in everyday life?
– The issue of providing specialized care to patients with hemophilia is quite acute in the regions. Sometimes a patient cannot remove a tooth or crush kidney stones, because doctors are afraid of patients with hemophilia and do not want to deal with them.
They don't understand that there is already a blood clotting factor, that you can already do anything.
Two years ago we had an open-heart operation on a patient with hemophilia. Unfortunately, the majority of doctors do not know about this, and patients with hemophilia in the regions face the fact that it is very difficult for them to get other specialized care. Doctors simply do not want to take responsibility: you need to contact a hematologist, you need to figure out what dosages of the drug to enter before and after. Why does the dentist need these problems? They say, "No, I'm not going to do this." And who will be?
– Are there any restrictions for patients with hemophilia in the areas of professional activity, sports?
- of course. Despite preventive therapy, all contact sports, football, etc. are prohibited. Children still play football on the sly in the yard, but that's why we are conducting explanatory work among children, among parents.
We have always opposed [the fact] that there is a list of contraindications to working as a judge. I still don't understand why? Judge – and it is forbidden. This is the only one. Patients with hemophilia work in completely different fields. I know patients with hemophilia who were even movers, who were engaged in industrial mountaineering.
Blood Brothers
– Tell us about the activities of your organization. What do you do?
– We are one of the oldest patient organizations, the All–Russian Society of Hemophilia was established in 1989. We are very similar in essence to a trade union. It is much easier to protect your rights when everything is in your fist. We represent and protect the interests of ourselves.
The second is informing. Patient schools, website, magazine, literature, forum. Information activity.
The third is the social sphere. Children's parties, Christmas trees, joint excursions. This is financial assistance to people who need some kind of support at the moment.
And the last direction is international activity. We communicate with our blood brothers. There is the World Federation of Hemophilia, there is the European Consortium on Hemophilia. We communicate, go to conferences, there is a cooperation program. They used to help us, now we are helping other countries. We had cooperation programs with Uzbekistan, with Kazakhstan, and now there is medical cooperation between Russia and Moldova.
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17.04.2017