- Hemophilia: a normal life is possible
- How to deal with hemophilia
- Can I play sports?
One hundred years ago, hemophiliacs
Hemophilia - a rare, but the disease sign
rarely live up to thirty years. Today, these people have the opportunity to live an almost normal life. Currently, however, acute and hemophiliacs another problem - the possibility of obtaining timely treatment. According to statistics, only thirty percent of patients have access to modern methods of treatment.
Blood that stops
Imagine that you accidentally cut yourself. Blood is a few minutes and then stops, the clot is formed - a stopper which closes the flow of blood, sealing the wound. After some time of her no trace remains. If you get hit, you have produced a bruise that resolves within a week.
For people with hemophilia, all this is happening in a different way. If a man hits, he formed a large hematoma, sometimes up to several tens of centimeters in diameter. Open wound bleeds for a long time.
Despite the widespread belief that people with hemophilia hypersensitivity of blood vessels, it does not. It's all here in violation of screwing the blood due to its chemical composition. In order to form a clot and stop the bleeding, the body must have thrombokinase in the blood, which in hemophiliacs insufficient. Therefore, their blood does not clot long.
Once the cause of the disease was a mystery to doctors, but they are now known. The whole point of the gene defect, because of which in the body and there is not enough for normal clotting thrombokinase.
There are two types of hemophilia, but the consequences of the same. Disease type A (85% of patients) means that the body is broken protein production "Factor VIII». Hemophilia Type B (15% of cases) - violation of the protein production "Factor XI». In the world of about half of patients with hemophilia have a severe form of the disease, for others it takes a more or less moderate. Severe hemophilia can quickly lead to death if the patient in the short term will not be helped. It may occur spontaneous excessive bleeding, even without receiving a pin or open wound. Fortunately, in most cases the problem is amenable to therapy.
Women - carriers of hemophilia
To understand the origins of hemophilia is necessary to make a small excursion into genetics. We each have twenty-three pairs of chromosomes. Each gene is represented by two versions of them - received from father and mother. Exception - sex chromosomes because women have two chromosomes X, while men - XY.
Hemophilia is a recessive gene. If one gene is sick, the other healthy, then the person will not get the disease. But this gene prikleplen to the X chromosome, and in men it is only one, so that if the gene ill, the man, the owner of this gene will be sick with hemophilia. In women, the situation is different: two X chromosomes, and if there is one gene of the patient, the other chromosome, which in most cases is healthy, will override the negative impact of this gene, and would develop the disease. The woman may also be hemophiliacs, but these cases are extremely rare.
The test for hemophilia during fetal development
Moms are the carriers of the hemophilia gene, and they often pass it on to his sons. If a girl is born, she also has a chance to become the carrier of the hemophilia gene. If the father is sick, it passes the hemophilia gene to their daughters and not sons. Being aware of the dangers of hemophilia, parents can do a test to identify the gene in more nascent child.
Joints - victims of hemophilia
A person who is sick with hemophilia invariably suffer the joints, and spontaneous bleeding occurs mostly in the knees, ankles, which will eventually become very painful. The presence of these blood damages the tissue of the joints, bones become porous, its structure is broken, they become brittle, broken their mobility.
Also affected muscle, because they also often have spontaneous bleeding, which leads to the formation of extensive hematomas. Muscles in time also become painful, weak, lose their tone.
Some bleeding may be fatal, depending on the affected organ. For example, if it is started in the brain, it is necessary to take measures, or e to avoid irreparable consequences. The same can be said of the heart or of the area close to it. Fortunately, with modern achievements of medicine withstand even serious manifestation of hemophilia is becoming easier. However, any type of surgery surgery become extremely problematic.