Hemophilia in children is a hereditary disease that is transmitted both through the male and female lines, but it manifests itself only in men. The disease is associated with a violation of the production of enzymes responsible for the processes of blood clotting. The gene that transmits the trait of hemophilia behaves aggressively only when coupled to the x chromosome. The disease in this case can lead to blood loss and even death. Here she is - the "insidious" carrier of the recessive gene.
The term "hemophilia" appeared in 1820. The name of the disease was given by the doctor Johann Shenlein, he took the Greek words "love" and "blood", since the trait is transmitted only through the sex chromosomes. A German scientist first described the symptoms of hemophilia. But the reason has not been determined. Only in the middle of the 19th century, the Russian physiologist Alexander Schmidt, linked hemophilia and lowblood clotting.
Why is hemophilia called the "royal disease"?
One of the assumptions for the occurrence of the disease is a gene mutation. It is known that in the royal families there were frequent connections between distant relatives. It is believed that this is what first led to the fact that Queen Victoria became the "carrier" of the disease. Later, her son, Edward Augustus, also great-grandchildren, including the Russian Tsarevich Alexei Nikolayevich, suffered from hemophilia. This is what the family tree of the family looks like on the basis of the transfer of the recessive gene.
What is hemophilia?
Hematopoietic processes are quite complex. It is believed that clotting in human blood has its own "stages", called factors. They in science received their Roman designations: from one to thirteen. Coagulation factors are activated sequentially, and depending on which of them "falls out", the types of diseases are also divided. Each previous stage triggers the next, so if the processes associated with the beginning of the "chain" are disturbed in the body, the disease is considered more severe. The last factor in proper clotting is a blood clot that occurs at the site of a cut or wound, which stops blood flow. The causes of hemophilia in children are most often associated with a violation of these processes. The photo shows red blood cells without platelets. Normally, it is they who "wind on themselves" red blood cells, stopping the blood, forming a blood clot.
Depending on which factor is missing, there are three types of hemophilia:
- 85% of people in the world who have this recessive trait suffer from hemophilia type A. It is associated with a lack of antihemophilic globulin.
- Hemophilia B (Christmas disease) is caused by a lack of an enzyme called thromboplastin, which simply does not exist in the plasma. This is factor IX. Approximately 13% of carriers of the gene suffer from this form.
- Hemophilia type C, very rare. It occurs in only 3% of patients with hemophilia. It lacks factor XI, a special protein that precedes thromboplastin.
There are other hereditary diseases associated with the "loss" of one or another factor. Sometimes they appear unexpectedly - during the extraction of a tooth, or an accidental deep scratch. Hemophilia in children is especially dangerous - a small child does not give an account of many actions, the risk of injury to the child increases.
Gene inheritance
What is hemophilia in terms of genetics? The hemophilia gene, as we noted earlier, clings to the X chromosome. Therefore, women are carriers of the disease. Their descendants can also pass this gene on to their sons. Children of a father with hemophilia can also inherit the gene.
Female children are "carriers" of the gene, but they themselves are he althy. The probability of having a child with hemophilia is 50%. Moreover, "carriage" can manifest itself in a generation - from grandfather to grandson.
Usually families knowabout their illness and in some cases involve genetics in solving their problems. Sometimes one of the solutions is artificial insemination, when parents choose a female child. But do not forget that hemophilia in her children can also manifest itself.
How does the disease manifest itself in children?
The first symptoms of hemophilia in children may appear immediately after birth, when the obstetrician sees that the blood from the umbilical cord does not stop. Usually, if hemophilia is suspected, women are shown a caesarean section, since physiological childbirth can lead to bleeding into the brain or injury to the organs and tissues of the child. Already in the first month of life, the mother may notice pronounced bruises and hematomas after vaccination at the injection site. Milder forms are manifested in bleeding of mucous membranes and muscles.
The more severe the form of hemophilia, the earlier it appears. Already in the first 4 months, when teething, bleeding does not stop within half an hour. The diagnosis is confirmed by the 8th or 9th month. At this time, the child is already actively moving or starting to walk, so extensive hemorrhages at the site of bruises and bruises cannot but attract attention. Other external signs of hemophilia in children include: frequent, persistent nosebleeds or bleeding from the gums, pale and blue face.
Hematomas compress arteries and pinch nerve endings. Joint injuries are especially dangerous. If at the site of impact for the first time the blood flow slowly returns to normal, then already with a secondary bruise,fibrinous clots, these dead cells accumulate in cartilage. The joints swell, the child may lose the ability to walk, he is in severe pain.
Mouth bleeding often occurs in sick children, for example, if a baby accidentally bites his tongue, he may choke on blood. In some cases, head bruises can cause blindness due to excessive pressure of the hematoma on the eye vessels and muscles.
From the age of six, the disease manifests itself, just like in adults. The child seems to be caught in a vicious circle. Due to muscle weakness caused by anemia, he often falls and hits, gets injured, which leads to bleeding, problems in organs and joints.
Hemorrhages in the brain are not uncommon. The big problem is that children with hemophilia are especially active, because of the peculiarities of hematopoiesis, excitation processes prevail over inhibition processes.
How to diagnose?
How to tell if children have hemophilia? Diagnostics is already available in the womb. Studies allow us to study the chorionic villi as early as the 12th week of pregnancy. If for some reason it is impossible to extract the villus, after the 20th week, you can take the blood of the embryo. Research can lead to complications during pregnancy, so be sure to weigh the pros and cons. The risk of losing a child is quite high, it is 1-6%. Usually this study is used when there is a danger of other pathologies, and analysis is vital.
For a born person, a test is carried out forclotting. However, sometimes it is difficult to detect a form of hemophilia type B in the first months of life in a child, because the hematopoietic system is not yet fully functional, coagulation activity differs from the norm even in a he althy child.
To clarify the diagnosis, if hemophilia type A and B are suspected, a genetic test is performed to detect a gene anomaly. Accuracy 99% if there is one of the relatives - carriers of the gene.
In addition, it is possible to conduct a test to determine the coagulation activity of factors, but these tests are quite expensive and are rarely used in practice. Usually they are guided by the actual clotting time. If more than 30 minutes, then the diagnosis is almost confirmed.
Sometimes MRI can help in determining the consequences of the disease, to see hidden hematomas, which can serve as indirect evidence of the presence of the disease.
Treatment of the "royal disease"
Treatment of hemophilia in children is most often conservative. First of all, it is replacement therapy. The child is prescribed drugs, which include plasma with a large amount of antihemophilic globulin. These drugs restore the hemostatic ability of the blood.
Interestingly, mother's milk contains a high concentration of thromboplastin, and for type 9 hemophilia, breastfeeding and lubricating bruises and cuts can be an effective preventive measure.
Another option is blood transfusions from relatives. Antihemophilic globulin is destroyed outside the human body,accordingly, it is not advisable to inject the harvested plasma.
The Pitfalls of Drug Therapy
Frequent blood transfusions sometimes lead to an increase in the concentration of antibodies in the blood, as a reaction to an excess of foreign enzymes. In this case, urgent transfusion is indicated. A large number of antibodies reduces the effectiveness of drug treatment, the body, as it were, restores itself to its original state.
In some cases, immunosuppressive therapy is prescribed. However, it is not effective for all patients.
Nursing care
Such children are always registered. The nursing process for hemophilia in children should be organized by the local pediatrician. Usually such babies are often examined by a nurse, blood is regularly examined and the work of the internal organs of the child is monitored.
It is important for parents to prevent any danger associated with the risk of injury and bruising to the baby. Remove heavy and sharp objects (needles, syringes, scissors, knives, forks) from the child's line of sight.
Such children, although active, get tired quickly and eat poorly. It is better not to overload the child with unnecessary errands. Often, these babies are prescribed a gentle massage to ensure muscle tone.
The child's diet should be as balanced as possible, it is better to include iron-rich foods in the diet. It is necessary to exclude the possibility of cutting the gums with skin or bones. For example, apples are best peeled, and removed from lemons or oranges.bones.
If the child is big enough, then you can explain to him the dangers of his illness and tell him about the rules of behavior. Teach personal hygiene features: how to brush your teeth so that your gums are not injured, how to cut your nails, or what toys to avoid (darts, traumatic guns).
It is very important that parents themselves know how to behave in case of an unforeseen situation. A first aid kit with ampoules of medicines or injectables should always be at hand.
If a child has a joint injury, it is necessary to immobilize the limb, apply cold locally in the first seconds. If the volume of blood in the joint increases rapidly, a tissue puncture may be required, usually emergency specialists perform these operations easily. It is important to remember that the sooner help is called, the greater the chance of a successful outcome.
Features of teaching sick children
There are no restrictions on the child's communication with peers. Educational activities with children with hemophilia are practically the same as those that are usually carried out with other children. However, it is necessary that teachers and educators understand how to behave in an emergency. The task of the teacher is to provide such a student with adequate working and rest conditions. Do not "focus" attention on his problem, at the same time, carefully monitor the child's condition. The only thing is that the lessons of physical culture and labor for such children should be limited to a weak load. It is better for boys not to approach difficult machines or lift heavy weights or participate in rough sports.
Importantso that the child adequately perceives his illness, does not overwork himself.
It is worth having a conversation with the child's peers and explaining how to behave properly with such a special classmate. It is better to find a quiet activity for such a child, which he will be interested in and able to do.
If a child is injured, you should immediately call an ambulance, apply ice and try to stop the bleeding.
Hemophilia in children: clinical guidelines
Hemophilia refers to diseases that require a special attitude of the environment. It is incurable. However, there are cases when a person lived a whole life and remained vigorous and strong until old age. First of all, it is worth knowing that such patients are always at risk. Operations are carried out only in exceptional cases with the use of special supportive therapy. However, you should not protect the child from the whole world. He has the right to communication and personal space. However, you can also purchase such a splyushka pillow.
She will protect the child not only from bruises, but also from loud sounds. It is necessary that the child knows how to behave in an emergency and where to get the right drug (for children over 10 years old). Prevention is the best way to keep your child safe.
Every patient with hemophilia is registered in a district polyclinic or a special center. Everyone has a special document - a book. In it, the doctor notes what treatment the patient is receiving and how effective it is. Besides,contains information about the type of disease, its severity, the drugs and therapy that he needs to take. In emergency cases, this document saves the lives of such patients.
You should be very careful about any surgical manipulations and interventions. Even for such an operation as tooth extraction, such patients are necessarily hospitalized in a specialized clinic, where such interventions are carried out under the supervision of doctors. And if a person is waiting for an abdominal operation, then in this case, preoperative blood transfusion and drug therapy are mandatory.
Hemophilia patients sometimes need psychological help. Not many young people can overcome some of the phobias associated with the constant danger of being maimed on their own. Psychological problems are exacerbated during the period of growing up and attempts to build relationships with the opposite sex. Not every girl will dare to risk starting a family with a person who has such a gene disorder. To reduce the stress factor, you should definitely consult a geneticist. It is worth remembering that such a gene manifests itself only in the male line.
In conclusion
Hemophilia is not an easy disease. Genetics is a science as exact as it is unpredictable. Even he althy people cannot understand how and where this or that hidden sign will manifest itself. In medicine, several hundred rare genetic disorders and mutations are known, which for many decades do not manifest themselves in any way in the genus. And even two perfectly he althy people cana special child is born. In this case, the best advice is to collect all the necessary information about the diagnosis, do not give up and do everything so that the child can feel happy, and most importantly, loved by the parents.
