Such a serious disease as hemophilia is inherited and manifests itself by frequent bleeding and bruising. Why does it appear in a child, how to identify it and can it be cured?
What is it?
Hemophilia is a disease in which a person often bleeds for a long time.
Causes
The disease is transmitted genetically from parent to child. The disease manifests itself mainly in men, since it is associated with the transfer of a gene that is linked to the X chromosome. Women with this gene transfer become carriers.
In girls, hemophilia can appear extremely rarely - if the father is sick, and the mother has a gene for the disease. Also, in some patients, hemophilia in relatives is not detected. Scientists explain the disease in them by gene mutations.
The gene that is affected in hemophilia is responsible for blood clotting, in particular for the presence in the child's blood of certain substances involved in coagulation (they are called clotting factors).
Taking into account which factor is missing, types are distinguished:
- hemophilia A - the most common and associated with the absence of factor VIII;
- hemophilia B - with this type, there is no factor IX in the child's body;
- hemophilia C is the rarest type, which is now referred to as coagulopathy.
The symptoms of all these pathologies are the same, but finding out the type of disease is very important for treatment.
Disease development
Due to the lack of a specific clotting factor, the process of blood clot formation is disrupted when the vessels are damaged. At the same time, bleeding in hemophilia is represented by the hematoma type, which is delayed.
Immediately after damage to the vessel, platelets are responsible for blood clotting, forming a primary thrombus. However, this clot cannot stop the bleeding completely, and since the formation of the final clot is impossible due to the lack of the necessary clotting factors, the bleeding resumes and lasts a long time.
Depending on the severity of hemophilia, it can be:
- light - bleeding appears only with trauma and medical manipulations);
- moderate - extensive hematomas, the disease manifests itself in childhood);
- severe - the disease is detected during the neonatal period).
Symptoms
The main symptoms of hemophilia in a child are:
- Bleeding.
- Hematomas.
- Hemarthrosis.
The disease manifests itself primarily in excessive bleeding. The patient periodically has bleeding of different localization. A feature of such bleeding is their inconsistency with the severity of the damaging factor, as well as the appearance over time, and not immediately after the injury. As a result of such bleeding during dental and other medical procedures, as well as trauma, the child loses a lot of blood. If bleeding from the gums or nose begins, conventional methods are difficult to stop.
With mild trauma, patients with hemophilia develop large hematomas. The blood in them does not thicken for a long time. Also, very often in children, hemarthrosis (bleeding inside the joints) can form, in which the joint swells, hurts, and stops functioning. In most cases, the knee, elbow, and ankle joints are affected.
The disease is often accompanied by indigestion. Blood may be present in the urine and feces of people with hemophilia.
In children of the first months of life, the disease often manifests itself in the form of cephalohematomas - hematomas appear on the head and can occupy a large area.
Another symptom that occurs in newborns is bleeding from the umbilical cord. At the same time, in most infants, hemophilia may not manifest itself at all, since blood clotting in the first months of life is provided by the substances found in breast milk.
Complications
The disease is especially dangerous with the sudden appearance of bleeding in the tissues of the brain or spinal cord, as well as hemorrhages in other important organs. With a severe form of the disease, 10% of newborns develop cerebral bleeding that threatens their lives.
Also, complications of the disease include the appearance of chronic pain, arthropathy, contractures, anemia, pseudotumors. Hematomas can compress arteries, nerves, and intestines, causing necrosis, sensory disturbances, obstruction, and other problems. With retropharyngeal bleeding, the child may become choked.
In addition, a person with hemophilia is constantly at risk of contracting blood-borne diseases, because he is forced to receive drugs from donated blood.
Diagnostics
- The anomaly can be diagnosed even before the baby is born.
- In a newborn, the thought of hemophilia may be prompted by prolonged bleeding from the cut umbilical cord, as well as the appearance of hematomas.
- In older children, suspicions can cause frequent bleeding from the nose, extensive hematomas when falling, long-term non-absorbable bruises, the appearance of hemarthrosis in large joints.
To identify hemophilia, adults are asked about family genetic diseases, as well as laboratory tests, among which the main ones are blood clotting tests.
The first studies will reveal an increase in blood clotting time with normal prothrombin and thrombin tests. After them, clarifying analyzes are carried out, in which the level of coagulation factors is determined.
Treatment
For the treatment of hemophilia, replacement of the missing coagulation factors is used. By injection, factors that are not produced in him are injected into the patient's blood. The drugs are made from donated blood. For type A disease, fresh blood can be transfused, as factor VIII is destroyed by long-term storage. For type B treatment, canned blood can be used, since the ninth factor is not destroyed during storage of the donor material.
If a child develops hemarthrosis, rest and immobilization, puncture of the hematoma, or surgical treatment are prescribed, depending on its severity.
Probability of inheritance
If the mother is healthy and the father has hemophilia, then in such a family all the boy children will be healthy, and all the female children will become carriers of the disease gene.
If the father is healthy, and the mother has the hemophilia gene, then the sons can be both healthy (if the son gets a healthy X chromosome), and sick (if the son has an X chromosome with the disease gene). Daughters in such a family can be both completely healthy and become carriers of a disease-causing gene.
Care Tips
Although the disease cannot be cured, with proper therapy, the health of people with hemophilia can be maintained at a satisfactory level. All children diagnosed with hemophilia are registered with dispensary. Their parents are told about the peculiarities of patient care, and also taught how to provide first aid to a child with bleeding.
It is important to create all the conditions for the normal development of the baby, as well as to prevent bleeding. Children with this disease cannot work physically, so an emphasis should be placed on intellectual work.
Do not confuse hemophilia with hemophilic infection, which is given to children at an early age. These are different diseases and the vaccine against hemophilia does not exist. As for vaccination for hemophilia, it is not canceled, but on the contrary, it is recommended. However, injections of a sick child can only be given subcutaneously.
