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Hemophilia is an inherited genetic disease that develops when one gene on the X chromosome changes. Hemophilia is mainly expressed in the insufficient rate of blood clotting, which is the cause of excessive bleeding.
Only men suffer from hemophilia, but they inherit the disease from their mother. That is, the transmission of genetic pathology is carried out according to the recessive, X-linked type. The woman herself is only a carrier of the altered gene, but she does not develop the disease. Although science knows several cases of hemophilia in females. However, this can only happen if the girl’s mother is a carrier of a dangerous gene, and the father suffers from this disease. Then a female child born to such parents will also be sick with hemophilia.
Why hemophilia develops, symptoms of the disease
The most common myth regarding hemophilia is that a person can bleed to death after receiving even a minor scratch. In fact, this is not entirely true. Increased bleeding and a tendency to profuse bleeding is indeed a sign of illness, but bleeding can occur even without previous injury.
The main symptoms of hemophilia:
Increased bleeding that occurs from time to time. Moreover, bleeding can open against the background of the injury, after tooth extraction, during surgery.
Nosebleeds or gum bleeding can be difficult to stop. Sometimes it occurs spontaneously.
Even with a minor injury, the patient develops a large hematoma.
A tendency to hemarthrosis, in which bleeding develops inside the joint, when its tissues are damaged. In this case, the person will experience joint pain, the site of the lesion will become swollen, the range of motion is limited. Secondary hemarthrosis leads to impaired joint mobility.
People with hemophilia often suffer from indigestion.
There may be blood in the urine and stool. Her appearance in the stool should be the reason for contacting the doctor. The fact is that patients with hemophilia often develop kidney pathologies.
Hemorrhage in the brain and spinal cord is the most formidable complication of the disease, which can lead to death.
How does hemophilia manifest in a child?
In newborn children, the disease manifests itself in the form of the formation of large subcutaneous hemorrhages in the head region. They are called cephalohematomas. In addition, the baby may bleed from the umbilical cord.
Sometimes the symptoms of hemophilia in a sick child are mild, especially in the first few months of life. The fact is that the baby receives antibodies from the mother, which allow the blood to clot normally.
Why does hemophilia develop?
Hemophilia is a hereditary disease, but it affects mainly men, and women are a carrier of a dangerous gene that is located on the X chromosome. Therefore, the risk of transmission of pathology by inheritance to sons is extremely high.
Hemophilia is inherited in an X-linked recessive manner. A man has one X chromosome, if he receives it from his mother, then along with it he gets hemophilia.
Modern medicine makes it possible to detect pathology even during the intrauterine development of the child. After his birth, the symptoms of the disease will be increased bleeding and massive hematomas that form for no reason.
Science has not yet found ways to combat the disease, since it is laid down at the genetic level. People born with hemophilia should take care of their health and follow all the recommendations given by the doctor.
Inheritance options for the disease
If the father is healthy and the mother is a carrier of the gene, then such parents can have an absolutely healthy son or an absolutely healthy daughter, but there is also a chance of having a sick son and a disease-carrying daughter. The probability of the birth of each child (both sick and healthy) is 25%.
Healthy father, mother – gene carrier:
If a man has hemophilia and the mother is healthy, then all sons will be healthy, and all girls will be carriers of the disease.
Father with hemophilia, healthy mother:
If the father has hemophilia and the mother is a carrier of the gene, then a healthy or sick son, a sick daughter, or a daughter who carries the gene can be born. The probability of the birth of each of the children is 25%.
The father is a patient with hemophilia, the mother is a carrier of the gene:
Types and forms of hemophilia
Depending on the severity of the course of the disease, 3 forms of hemophilia are distinguished, among which:
A mild form of the disease, in which bleeding develops only after surgical procedures, or against the background of an injury.
A moderate form of the disease, in which its symptoms develop in childhood. Bleeding can open after an injury, and large hematomas often form in a person.
A severe form of the disease, in which its symptoms appear in the first months after the birth of a child: during teething, while walking and crawling.
Parents should not ignore nosebleeds in a child if they occur frequently. Also, large bruises and bruises that appear in a baby after minor falls and bruises should alert. Such hematomas tend to grow, swell, and when touched, the child will experience pain. Bruises go away for a very long time – for several months.
Hemarthrosis may be the only sign of hemophilia in a child under 3 years of age. In this case, most often it is the large joints that are affected: knee, elbow, hip, shoulder. In this case, the child will complain of severe pain, impaired joint mobility, and swelling. An increase in body temperature is also possible. All these symptoms should be a reason to see a doctor.
There are three types of hemophilia:
Type A, when the disease is caused by a gene abnormality and the patient’s blood will lack antihemophilic globulin, factor VII. This is the most common type of the disease, occurring in 85% of patients. This variant of the course of pathology is considered classical.
Type B. In this case, the patient has a deficiency of IX factor of blood clotting. In such patients, there is a failure in the formation of the coagulation plug.
Type C. In this case, the patient will have minimal amounts of coagulation factor XI. This type of disease is less common than others.
Although the disease manifests itself with identical symptoms, regardless of its type, it is important to know it, as this allows for the highest quality treatment.
How is hemophilia diagnosed and treated?
To make a diagnosis, it is necessary to perform a genealogical history, take laboratory tests and study the clinical picture of the disease. The doctor should find out if close relatives of the patient, in particular, men on the maternal side, suffered from hemophilia.
During a laboratory blood test, a plasma sample is added to it, in which there is no clotting factor, it is important to determine the total number of these factors, as well as the level of their deficiency, to conduct an analysis to clarify the blood clotting time. The results obtained will allow us to evaluate the changes that occur in the patient’s body.
Although the disease cannot be cured, its course can be brought under control. Patients will have to receive injections of the factor that is deficient in the body. So, with hemophilia type A, a person receives factor VII, and with hemophilia type B, factor IX. These factors are produced either from donated blood or from the blood of animals that are raised specifically for this purpose.
If a person is sensitive to his own health, and the doctor prescribes the right treatment for him, then his life expectancy can be equated to the life expectancy of an ordinary person.
Exercises for the rehabilitation and development of joints in hemophilia: