Hemophilia in children

Hemophilia is one of the most serious hereditary diseases, the development of which is associated with gender. That is, girls are carriers of a defective gene, but the disease as such manifests itself only in boys. The disease is caused by a genetically determined shortage of plasma factors that ensure blood coagulability. Despite the fact that it is known for a long time, the name "hemophilia" disease was received only in the 19th century.

There are several types of hemophilia:

Causes of hemophilia

The inheritance of hemophilia A and B occurs, as already mentioned, along the female line, since men suffering from this disease often do not live to reproductive age. However, in recent years considerable progress has been noted in the treatment, which allows increasing the life span of sick people. In addition to the positive effect, this also brought about negative consequences - a noticeable increase in the number of patients worldwide. The main percentage of diseases (more than 80%) refers to genetic, that is, inherited from parents, the remaining cases - a sporadic mutation of genes. And most cases of sporadic hemophilia of the mother developed from a mutated paternal gene. And the older the father, the higher the probability of such a mutation. Sons of men suffering from hemophilia are healthy, daughters are carriers of the disease and pass it on to their children. The probability of producing a sick son in female carriers is 50%. In rare cases, there is a classic disease in women. As a rule, this happens when a daughter is born to a patient with hemophilia of the father and the carrier mother of the disease.

Hemophilia C is inherited by children of both sexes, and men and women are equally affected by this type of disease.

Any of the types of hemophilia (hereditary or spontaneous), having appeared once in the family, will later be inherited.

Diagnosis of hemophilia

There are several degrees of severity of the disease: severe (and very severe), of medium severity, mild and hidden (erased or latent). Accordingly, the higher the severity of hemophilia, the more pronounced the symptoms, the stronger bleeding is more often observed. So, in severe cases there are spontaneous bleeding even without a direct connection with any injuries.

The disease can manifest itself regardless of age. Sometimes the first signs can be seen already in the period of newborn (bleeding from the umbilical wound, subcutaneous hemorrhage, etc.). But most often, hemophilia manifests after the first year of life, when children begin to walk and the risk of injury increases.

The most common symptoms of hemophilia are:

In this case, bleeding starts not immediately after the injury, but after some time (sometimes more than 8-12 hours). This is explained by the fact that primarily bleeding stops with platelets, and with hemophilia, their number remains within normal limits.

Diagnose hemophilia with various laboratory tests that determine the period of coagulation and the number of anti-hemophilic factors. It is important to distinguish between hemophilia and von Willebrand disease, thrombocytopenic purpura, and Glanzmann thrombastenia.

Hemophilia in children: treatment

First of all, the child is examined by a pediatrician, dentist, hematologist, orthopedist, preferably a genetic examination and consultation of a psychologist. All specialists coordinate their actions for the preparation of an individual treatment program, depending on the type and severity of the disease.

The main principle of the treatment of hemophilia is substitution therapy. Patients are injected with anti-hemophilic preparations of various types, freshly prepared citrated blood or direct transfusion from relatives (with HA). With hemophilia B and C, canned blood can be used.

Three main methods of treatment are applied: on treatment (with bleeding), home treatment and prevention of hemophilia. And the last of them is the most progressive and important.

Since the disease is incurable, the rules of life of patients with hemophilia are reduced to avoiding injuries, compulsory dispensary registration and timely therapy, the essence of which is to maintain the missing blood factor at a level of not less than 5% of the norm. This avoids hemorrhages in the muscle tissue and joints. Parents should know the peculiarities of caring for sick children, basic methods of first aid, etc.