Many are interested in what is called a hereditary disease causing blood clotting? This is hemophilia. Similarity with parents is ensured by the transmission of traits contained in the chromosome region — the gene. A healthy person has 23 pairs of chromosomes, the latter - sex X (female) and Y (male). Hemophilia is caused by a mutation of a specific gene on the X chromosome. Two genes are responsible for each trait at once - the main (dominant) and secondary (recessive). If both of them, received from parents, are dominant or recessive, the child inherits this trait. But hemophilia is transmitted on a secondary basis and only on the X chromosome. Accordingly, women are carriers, and only men are ill. After finding out the name of the disease with blood clotting, you should decide on its treatment.
Does a child necessarily inherit a mutated gene?
The following variants of a hereditary disease with blood clotting are likely: a sick man and a healthy woman in a marriage will have healthy sons and daughters who will conduct the disease. A healthy father and mother can equally have both healthy and sick sons. Hereditary hemophilia is observed in 7 out of 10 people, while its severity remains. In the remaining 3 - acquired (sporadic) form. A mutation occurs in the region of the X chromosome responsible for blood coagulation (hemostasis). In the next generation, it becomes hereditary. After we figured out what the name of the disease with blood coagulation is called and how it is inherited, we should proceed to its symptoms.
Signs in infants
Symptoms of hemophilia in children up to a year:
- blood discharge in the navel;
- excess bleeding after injection;
- increase in time of resorption of hematomas.
Signs in Preschoolers
Symptoms of hemophilia in children from 2 to 7 years:
- persistent bleeding from the nose and gums;
- the appearance in the feces of a child streaks of blood;
- excess blood levels in urine;
- the appearance of a large number of bruises, the absorption of which takes a lot of time. As a result, they can lead to various diseases;
- possible bleeding in the internal organs and hemorrhages in the brain.
Symptoms in women
Symptoms of hemophilia in women:
- excess discharge during menstruation;
- persistent bleeding from the nose;
- persistent bleeding from the gums after tooth extraction;
- the appearance of hematomas after weak strokes.
Signs in men
The following symptoms are added to the symptoms of blood clotting disease in men:
- osteoarthrosis caused by blood entering the joints;
- bleeding in the throat, may be caused by a cough;
- necrosis of bone tissue, due to hemorrhage in it;
- subcutaneous and intramuscular hemorrhages leading to tissue necrosis;
- muscle atrophy;
- diseases of the abdominal cavity caused by persistent retroperitoneal bleeding.
Types of hemophilia
By the type of disorders that the coagulation system may be subject to due to an X chromosome mutation, 3 types of hemophilia can be distinguished (the name of the disease with blood clotting):
- Type A. It occurs in most cases (up to 85% of diseases). With this variant of hemophilia, a deficiency of factor VIII is noted, which causes problems in the synthesis of thrombokinase.
- Type B (or Christmas disease). Caused by insufficient synthesis of factor IX. This factor is also responsible for the synthesis of thrombokinase, but also for the production of secondary coagulating plugs. The frequency of occurrence for this type is 13%.
- Type C. To meet this type of hemophilia is possible only in 2% of patients with a diagnosis. The key feature is that not only men, but also women are affected by the dominant type of disease. Type C is determined with a lack of thromboplastins, for which factor XI is responsible. It is important to note that some nations are more susceptible to this type of disease. First of all, this applies to Ashkenazi Jews.
In modern discussions about hemophilia and its classifications, the question arose as to whether type C should be included in the general list of varieties of the disease. Most have come to the conclusion that this subspecies is too different from Type A and B in its manifestations, which means that it must be excluded from it.
Diagnostics
The earlier the diagnosis of hemophilia was started, the more likely it is to prevent the development of severe pathological complications. The diagnosis of hemophilia is mainly based on laboratory and gene analyzes. Ideally, before planning a pregnancy, couples should receive qualified genetic counseling, especially if there have been cases of the disease in the family. Molecular genetic studies will help establish the gene carrier and make appropriate decisions in the future.
At the stage of pregnancy, a woman at risk has the opportunity to undergo the so-called prenatal diagnosis, with which you can determine the presence of hemophilia in the fetus. In order to carry out prenatal studies, a chorionic biopsy and amniocentesis are performed to study the cellular material of the fetus.
In a newborn child, a list of special laboratory blood tests is recommended for the diagnosis of hemophilia, the main determinant of which is the coagulation time and classification of the type of hemophilia (A or B). Among the most frequently performed analyzes should focus on the following:
- coagulogram (the test determines the period of blood coagulation);
- blood test to determine the activated partial thromboplastin time (APTT);
- a blood test for prothrombin (INR) - a blood test for thrombin time;
- determination of plasma recalcification time;
- a test to determine the polymorphism of DNA fragments (most accurately identifies a gene that has undergone mutations and allows you to accurately determine the type of hemophilia;
- blood sampling to determine the concentration of coagulation factors, the identification of coagulation antigens.
In addition to laboratory tests, for a full diagnosis of hemophilia in a child, consultation with specialized specialists (hematologist, neonatologist, pediatrician) is necessary.
Treatment
Hemophilia treatment should be comprehensive. Its obligatory component is the development of an individual daily regimen, sports and physical activity. Physical activity is encouraged for these patients. But she must be special. Non-contact sports are recommended - dosed walking, swimming in pools, table tennis, cycling and golf. Well, of course, highly active sports areas are banned:
- football;
- hockey;
- skates;
- skiing;
- different types of wrestling.
If the patient decides to engage in any of the sports (permitted), then in this case it is recommended to protect the affected joints (if any) with bandages, especially for patients who do not prophylactically receive drugs that increase the factor. As for drug treatment, there is the so-called substitution preventive therapy. It consists in the intravenous administration of a factor concentrate when there is a perceived risk of injury (episodic therapy or “on demand”).
Drug therapy
There is also a category of patients who should receive ongoing preventive treatment. These are patients with a severe degree of hemophilia (when the concentration of factor VIII or IX is less than 1%), moderate severity in combination with at least one case of hemarthrosis. But you need to remember that preventive treatment is not able to eliminate existing damage to the joints. And his main goal is to provide the patient with a full life, reduce the likelihood of disease progression and the frequency of bleeding. Preventive treatment regimens:
- with hemophilia A (factor VIII deficiency) - infusion with drugs of this factor ("Octanate", "Immunate", "Adveit") at a dose of 20-40 IU / kg 3 times a week;
- with hemophilia B (deficiency of factor IX) - infusion with drugs of this factor ("Oktayn", "Immunin") at a dose of 25-40 IU / kg 2 times a week.
It is recommended to enter these drugs in the morning. There is a concept of therapy at home. The introduction of this direction can reduce the risk of complications and protect the life of a patient with hemophilia. This type of therapy is carried out strictly under the supervision of qualified specialists and only after one of the family members has undergone appropriate training. In modern conditions, resort to the use of implanted venous accesses (especially in young children). But their main drawback is the difficulty in caring for such a device.
The treatment of bleeding will depend on their location. In the treatment of this category of patients requires a quick decision and timely start of therapy. General principles for helping patients with bleeding in the joints (hemarthrosis):
- Elimination of pain by short-term immobilization of the affected joint for a short period of time (only with a plaster cast!).
- Local hypothermia is advisable only in the first day after the injury, lasting 10-15 minutes every 3-4 hours.
Indication for joint puncture for hemarthrosis is: suppuration and a large amount of accumulated blood in it. As emergency care in the absence of preparations of factor VIII and IX, resort to the introduction of cryoprecipitate or freshly frozen plasma (which also contain components of the blood coagulation system). A well-coordinated and qualified approach to the treatment of patients with hemophilia allows to ensure a high quality of life and safety at any stage of life.