Hemophilia in children is a hereditary disease transmitted both through the male line and the female line, but it appears only in men. The disease is associated with impaired production of enzymes responsible for blood coagulation processes. A gene transmitting a hemophilia trait behaves aggressively only in conjunction with the x chromosome. The disease in this case can lead to blood loss and even death. Here she is - "insidious" carrier of the recessive gene.
The term "hemophilia" appeared in 1820. The name was given to the ailment by the doctor Johann Shenlein, he took the Greek words “love” and “blood”, since the symptom is transmitted only through sex chromosomes. The German scientist first described the symptoms of hemophilia. But he did not determine the reason. Only in the middle of the XIX century the Russian physiologist Alexander Schmidt linked hemophilia and low blood coagulation.
Why is hemophilia called "royal disease"?
One of the assumptions of the occurrence of the disease is considered a gene mutation. It is known that in the royal families there were frequent connections between distant relatives. It is believed that this was the first time that led Queen Victoria to become the "carrier" of the disease. Later, her son, Edward Augustus, also great-grandchildren, including the Russian prince Alexei Nikolaevich, suffered from hemophilia. This is what the family tree of a family looks like based on the transmission of a recessive gene.
What is hemophilia?
Hematopoietic processes are quite complex. It is believed that coagulation in human blood has its own "phasing", called factors. They in science received their Roman designations: from one to thirteen. Coagulability factors are activated sequentially, and depending on which one "falls out", the types of diseases are also subdivided. Each previous stage launches the next, therefore, if the processes associated with the beginning of the "chain" are disrupted in the body, the disease is considered more severe. The last factor in proper coagulation is considered to be 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" red blood cells onto themselves, stopping blood, forming a blood clot.
Depending on which factor is absent, three types of hemophilia are distinguished:
- 85% of people on earth who have this recessive trait suffer from type A hemophilia. It is associated with a lack of anti-hemophilic globulin.
- Hemophilia B (Christmas disease), due to a lack of an enzyme such as thromboplastin, it simply does not exist in plasma. This is factor IX. This form affects about 13% of gene carriers.
- Hemophilia type C is very rare. It occurs in only 3% of hemophilia patients. Factor XI, a special protein preceding thromboplastin, is lacking here.
There are other hereditary diseases associated with the "loss" of a factor. Sometimes they appear unexpectedly - during tooth extraction, or an occasional 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 to their sons. Children of the father of a patient with hemophilia can also inherit the gene.
Female children are "peddlers" of the gene, but they themselves are healthy. The probability of having a baby with hemophilia is 50%. Moreover, "carriage" can manifest itself through a generation - from grandfather to grandson.
Usually in families they know about their ailment 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 can be detected immediately after birth, when the obstetrician sees that the blood from the umbilical cord does not stop. Typically, women who have hemophilia are suspected to have cesarean, as physiological delivery can lead to bleeding in the brain or injury to the organs and tissues of the baby. Already in the first month of life, a mother can notice pronounced bruises and bruises after vaccination at the injection site. Lighter forms are manifested in bleeding of the mucous membranes and muscles.
The more severe the form of hemophilia, the earlier it appears. Already in the first 4 months with 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, therefore, extensive hemorrhages in the place of bruises and bruises cannot but attract attention. Other external signs of hemophilia in children include: frequent, non-stop nosebleeds or blood from the gums, pallor and blueness of the face.
Hematomas compress the arteries and pinch the nerve endings. Joint injuries are especially dangerous. If at the site of the impact for the first time the blood flow slowly returns to normal, then with a secondary bruise, fibrinous clots form, these dead cells accumulate in the cartilage. The joints are swollen, the child may lose the ability to walk, and severe pain will torment him.
In children of patients, oral bleeding often occurs, 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 hematoma pressure on the eye vessels and muscles.
From the age of six, the disease manifests itself, as well as in adults. The child, as it were, falls into a vicious circle. Due to muscle weakness caused by anemia, it often falls and hits, gets injured, which leads to bleeding, problems in organs and joints.
Hemorrhages in the brain are frequent. The big problem is that children suffering from hemophilia are especially active, because of the peculiarities of hematopoiesis, the processes of excitation prevail over the processes of inhibition.
How to diagnose?
How to determine if there is hemophilia in children? Diagnosis is already available in the womb. Studies allow us to study the chorionic villi already at 12 weeks of gestation. If for some reason it is impossible to extract the villi, after 20 weeks 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, 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 coagulation test is performed. However, sometimes a form of hemophilia type B in the first months of life is difficult to detect in a child, because the hematopoietic system does not yet work at full strength, the coagulation activity differs from the norm even in a healthy child.
To clarify the diagnosis of suspected hemophilia type A and B, a genetic test is performed to identify a gene abnormality. 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, however, these tests are quite expensive and are rarely used in practice. Usually focus on the actual coagulation time. If more than 30 minutes, then the diagnosis is almost confirmed.
Sometimes MRI can help determine the consequences of the disease, see hidden hematomas, which can serve as indirect evidence of the presence of the disease.
The treatment of "royal disease"
The treatment of hemophilia in children is most often conservative. First of all, this 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, breast milk contains a high concentration of thromboplastin, and with type 9 hemophilia, breastfeeding and lubrication of bruises and cut sites can be an effective preventive measure.
Another option is blood transfusion of relatives. Antihemophilic globulin is destroyed outside the human body; accordingly, it is not advisable to inject the prepared plasma.
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, brings itself to its original state.
In some cases, immunosuppressive therapy is prescribed. However, it is not effective for all patients.
Nursing
Such children are always registered. The nursing process for hemophilia in children should be organized by a local pediatrician. Usually these 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 injuries and injuries to the baby. Remove heavy and sharp objects (needles, syringes, scissors, knives, forks) from the child's field of vision.
Such children, although active, quickly get tired, eat poorly. It is better not to overload the child with unnecessary errands. Often, such babies are prescribed a gentle massage to ensure muscle tone.
The child's nutrition should be as balanced as possible, it is better to include foods rich in iron in the diet. It is necessary to exclude the possibility of cutting the gums with skin or bones. For example, it is better to peel apples, and remove seeds from a lemon or an orange.
If the child is large enough, then you can explain to him the dangers of his illness and talk about the rules of behavior. To teach personal hygiene: how to brush your teeth so that your gums are not injured, how to cut your nails, or what toys should be avoided (darts, traumatic guns).
It is very important that the parents themselves know how to behave in case of an unforeseen situation. A medical kit with ampoules of drugs or injectable drugs should always be at hand.
If the child received a joint injury, it is necessary to immobilize the limb, apply cold locally in the first seconds. If the blood volume in the joint increases rapidly, tissue puncture may be required, usually emergency specialists can easily carry out these operations. It is important to remember that the faster the help is called, the greater the chances 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 no different from those usually carried out with other children. However, it is imperative that teachers and educators understand how to behave in an emergency. The teacher’s task is to provide such a student with adequate working and leisure conditions. Do not "focus" attention on his problem, however, carefully monitor the condition of the child. The only thing is that the lessons of physical education and labor for such children should be limited by a light load. It is better for boys not to approach complex machines or to lift weights, not to participate in rough sports.
It is important that the child adequately perceives his illness, does not overwork himself.
It is worth having a conversation with peers of a child and explaining how to behave properly with such a special classmate. It is better to find a quiet occupation for such a child, which he will be interested in and capable of.
If the child is injured, you must immediately call an ambulance, apply ice and try to stop the blood.
Hemophilia in children: clinical recommendations
Hemophilia refers to diseases that require a special environment. It is incurable. However, there are cases when a person lived a whole life and remained awake and strong until old age. First of all, it is worth knowing that such patients are always at risk. Surgery is performed only in exceptional cases using special supportive therapy. However, do not protect the child from the whole world. He has the right to communication and personal space. However, here is such a pillow-slushushka can be purchased.
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 protect your child from harm.
Each hemophilia patient is registered in a district clinic or special center. Everyone has a special document - a book. In it, the doctor notes what treatment the patient receives and how effective it is. In addition, it contains information about the type of disease, its severity, the drugs and therapy that it needs to be taken are indicated. In urgent cases, it is this document that saves the lives of such patients.
It is worth paying attention to any surgical procedures and interventions. Even for an operation such as tooth extraction, such patients are required to be hospitalized in a specialized clinic, where such interventions are supervised by doctors. And if a person is expected to undergo abdominal surgery, then in this case preoperative blood transfusion and drug therapy are mandatory.
Hemophilia patients sometimes need psychological help. Not many young people themselves can overcome some phobias associated with the constant danger of being crippled. Psychological problems are exacerbated during the period of growing up and attempts to build relationships with the opposite sex. Not every girl will decide on the risk of creating a family with a person who has a similar 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.
Finally
Hemophilia is not an easy disease. Genetics is a science as accurate, so unpredictable. Even healthy people cannot understand how and where this or that hidden sign will manifest itself. In medicine, there are several hundred rare genetic disorders and mutations that do not manifest themselves in the family for many decades. And even two completely healthy people can have a special baby. In this case, the best advice is to collect all the necessary information about the diagnosis, not to give up and do everything so that the child can feel happy, and most importantly, with his beloved parents.