Causes, types, signs of hemophilia. Is there a gene for hemophilia? Treatment

Symptoms of hemophilia. Is there a gene for hemophilia

Hemophilia is a hereditary disorder of blood clotting. You may hear the term "blood hemophilia", but it is incorrect - the name of the disease already contains a blood problem. The first descriptions of hemophilia symptoms observed in boys date back to the 2nd century BC. The modern term was coined back in 1828, and already at that time scientists were wondering if there was a gene for hemophilia.

Causes and types of the disease

The main cause of hemophilia is a mutation of the X-chromosome, which causes a violation of blood clotting processes. The result of the mutation is that when blood vessels are damaged, a thrombus does not form, which makes it impossible to stop bleeding in a timely manner.

Depending on which blood coagulation factors are disturbed, the following types of disease are distinguished:

1. Hemophilia A is characterized by a deficiency of antihemophilic globulin, diagnosed in 80% of all cases. Only males suffer from this type of hemophilia, while females are carriers of the problematic chromosome. Exceptions are observed under the condition that the mother of the daughter is a carrier of the disease, and the father suffers from this pathology.
2. Hemophilia B – develops due to a lack of thromboplastin, is clinically similar to type A, is diagnosed in 20% of cases. Hemophilia, the recessive trait of which (blood clotting disorder) is linked to the X-chromosome, is also diagnosed only in boys.
3. Hemophilia C - occurs against the background of a lack of the plasma precursor of thromboplastin, diagnosed in 2 patients per 100 patients with hemophilia. This form of the disease is in no way related to the sex chromosome and therefore can develop in both women and men.

Symptoms of hemophilia

Hemophilia in children manifests itself from the first days of life, so it is not difficult to make a diagnosis. The smallest bruises and cuts are characterized by bleeding that does not stop for a long time and the formation of large hematomas. Similar problems arise when teeth erupt or fall out.

Symptoms of hemophilia in older age appear spontaneously or after any (even minor) trauma - bleeding or hemarthrosis. In the second case, we are talking about hemorrhages in the joint, after which it becomes swollen, painful, the person loses the ability to perform movements in it. Blood can accumulate not only in the joints, but also in other locations (for example, in the tissues of internal organs). Blood often compresses nerve endings, in which case the patient experiences severe pain. The volume of blood in hematomas can be different. Women who have hemophilia are at risk every month during menstrual bleeding.

Treatment of hemophilia

If the disease under consideration is suspected, the patient first undergoes a full examination - it is important to find out whether recessive hemophilia genes are present and which blood clotting factor is deficient. Only after that, therapy is prescribed - it is supportive, since the disease is incurable. Patients with hemophilia should regularly receive in the form of injections a sufficient amount of the blood clotting factor, the lack of which was detected. If the bleeding has already started, the patient is given intensive therapy. It is based on the following purposes:

• bed mode;
• introduction of fresh frozen plasma;
• introduction of hemostatic agents;
• local application of a hemostatic sponge.

Any surgical interventions in such patients should be carried out simultaneously with replacement therapy - doctors should be prepared for the fact that bleeding will occur in the patient on the operating table, which will have to be stopped as quickly as possible.

The heredity of hemophilia is well studied, so it is possible to predict the birth of a child with this problem with a probability of up to 90%. Patients with this disease can live a full life, but some activity restrictions are imposed for them.

More details about the genetic aspects of this disease (for example, whether hemophilia and color blindness are genetically related) can be found on the pages of our website https://dobrobut.com/.