What is hemophilia in children. How hemophilia is inherited and modern methods of treating the disease

Such a serious disease as hemophilia is inherited and is manifested by frequent bleeding and bruising. Why does it appear in a child, how to identify it and can it be cured?

What's this?

Hemophilia is a disease in which a person bleeds frequently and for a long time.

The reasons

The disease is transmitted genetically from parents to children. 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 the gene for the disease. Also, in some patients, hemophilia in relatives is not detected. Scientists explain the disease in them by gene mutations.

Girls are much less likely to develop hemophilia than boys.

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 clotting (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 classified as a coagulopathy.

The symptoms of all these pathologies are the same, but finding out the type of disease is very important for treatment.

Finding out the type of hemophilia is necessary for competent treatment

Development of the disease

Due to the lack of a certain 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 a hematoma type, which is delayed.

Immediately after damage to the vessel, platelets are responsible for blood clotting, forming a primary thrombus. However, this thrombus cannot stop the bleeding completely, and since the formation of the final thrombus is impossible due to the lack of the necessary clotting factors, the bleeding resumes and lasts quite a long time.

Depending on the severity, hemophilia can be:

mild - bleeding occurs only with trauma and medical manipulations);
moderate - extensive hematomas, the disease manifests itself in childhood);
severe - the disease is detected in the neonatal period).

Symptoms

The main symptoms of hemophilia in a child are:

Bleeding.
Hematomas.
Hemarthrosis.

The disease is manifested primarily by excessive bleeding. The patient periodically has bleeding of different localization. A feature of such bleeding is their discrepancy between the severity of the damaging factor, as well as the appearance over time, and not immediately after the injury. Due to such bleeding during dental and other medical procedures, as well as injuries, the child loses a lot of blood. If bleeding from the gums or from the nose begins, then the usual methods stop it with difficulty.

With a slight injury, large hematomas appear in patients with hemophilia. 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 appear at all, since blood clotting in the first months of life of the crumbs is provided by substances found in mother's 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. In a severe form of the disease, 10% of newborns develop cerebral bleeding that threatens their lives.

Also, the complications of the disease include the appearance of chronic pain, arthropathy, contractures, anemia, pseudotumors. Hematomas can compress arteries, nerves, intestines, causing necrosis, sensory disturbances, obstruction and other problems. With retropharyngeal bleeding, the child may begin to suffocate.

In addition, a patient with hemophilia is constantly at risk of contracting blood-borne diseases, because he is forced to receive drugs from donated blood.

Patients with hemophilia should by all means try to avoid any bleeding

Diagnostics

An anomaly can be diagnosed even before the birth of the baby.
In a newborn, the idea of having hemophilia can be prompted by prolonged bleeding from a cut umbilical cord, as well as the appearance of hematomas.
In older children, suspicions can cause frequent nosebleeds, extensive hematomas when falling, long-term non-absorbable bruises, and the appearance of hemarthrosis in large joints.

To detect hemophilia, adults are asked about family genetic diseases, and laboratory tests are carried out, among which blood clotting tests are the main ones.

The first studies will reveal the prolongation of blood clotting time in normal prothrombin and thrombin tests. After them, clarifying analyzes are carried out, in which the level of coagulation factors is determined.

Treatment

Replacement of missing clotting factors is used to treat hemophilia. With the help of an injection, factors that are not produced by him are introduced into the blood of the patient. The drugs are made from donated blood. In type A disease, fresh blood can be transfused, since factor VIII is destroyed during long-term storage. Banked blood can be used to treat type B, since the ninth factor is not destroyed during storage of donor material.

If a child has developed hemarthrosis, depending on its severity, rest and immobilization, hematoma puncture, or surgical treatment are prescribed.

Clotting factors necessary for the baby are injected into the baby's blood

Probability of inheritance

If the mother is healthy and the father has hemophilia, then in such a family all male children will be healthy, and all female children will become carriers of the disease gene.

If the father is healthy, and the mother has a hemophilia gene, then the sons can be both healthy (if the son receives a healthy X chromosome) and sick (if the son has an X chromosome with the disease gene). Daughters in such a family can be either completely healthy or become carriers of a disease-causing gene.

Although the disease cannot be cured, people with hemophilia can be kept in good health with the right therapy. All children diagnosed with hemophilia are put on a dispensary record. Their parents are told about the peculiarities of caring for the sick, and also taught how to provide first aid to a child with bleeding.

It is important to create all conditions for the normal development of the baby, as well as to prevent bleeding. Children with this disease cannot work physically, so the emphasis should be on intellectual work.

Hemophilia should not be confused with hemophilic infection, against which children are vaccinated at an early age. These are different diseases and there is no vaccination against hemophilia. As for vaccination for hemophilia, it is not canceled, but on the contrary, it is recommended. However, injections to a sick child can only be done subcutaneously.

- a hereditary pathology of the hemostasis system, which is based on a decrease or violation of the synthesis of VIII, IX or XI blood coagulation factors. A specific manifestation of hemophilia is the patient's tendency to various bleeding: hemarthrosis, intramuscular and retroperitoneal hematomas, hematuria, gastrointestinal bleeding, prolonged bleeding during operations and injuries, etc. In the diagnosis of hemophilia, genetic counseling, determining the level of activity of clotting factors, DNA- research, analysis of coagulogram. Treatment of hemophilia involves substitution therapy: transfusion of hemoconcentrates with coagulation factors VIII or IX, fresh frozen plasma, antihemophilic globulin, etc.

General information

Hemophilia is a disease from the group of hereditary coagulopathies, caused by a deficiency of blood plasma coagulation factors and characterized by an increased tendency to hemorrhages. The prevalence of hemophilia A and B is 1 case per 10,000-50,000 males. Most often, the onset of the disease occurs in early childhood, so hemophilia in a child is an urgent problem in pediatrics and pediatric hematology. In addition to hemophilia, other hereditary hemorrhagic diatheses also occur in children: hemorrhagic telangiectasia, thrombocytopathy, Glanzman's disease, etc.

Causes of hemophilia

The genes that cause the development of hemophilia are linked to the sex X chromosome, so the disease is inherited as a recessive trait in the female line. Hereditary hemophilia affects almost exclusively males. Women are conductors (conductors, carriers) of the hemophilia gene, transmitting the disease to some of their sons.

A healthy man and a female conductor are equally likely to have both sick and healthy sons. From the marriage of a man with hemophilia with a healthy woman, healthy sons or conductor daughters are born. Isolated cases of hemophilia have been described in girls born to a carrier mother and a father with hemophilia.

Congenital hemophilia occurs in almost 70% of patients. In this case, the form and severity of hemophilia is inherited. About 30% of observations are sporadic forms of hemophilia associated with a mutation in the locus encoding the synthesis of plasma coagulation factors on the X chromosome. In the future, this spontaneous form of hemophilia becomes hereditary.

Blood clotting, or hemostasis, is the most important protective reaction of the body. Activation of the hemostasis system occurs in case of damage to blood vessels and the onset of bleeding. Blood clotting is provided by platelets and special substances - plasma factors. With a deficiency of one or another coagulation factor, timely and adequate hemostasis becomes impossible. In hemophilia, due to a deficiency of VIII, IX or other factors, the first phase of blood coagulation is disturbed - the formation of thromboplastin. This increases the time of blood clotting; sometimes the bleeding does not stop for several hours.

Classification of hemophilia

Depending on the deficiency of one or another blood coagulation factor, there are hemophilia A (classic), B (Christmas disease), C, etc.

Classic hemophilia accounts for the vast majority (about 85%) of cases of the syndrome and is associated with a deficiency of coagulation factor VIII (antihemophilic globulin), leading to impaired formation of active thrombokinase.
For hemophilia B, constituting 13% of cases, there is a lack of factor IX (plasma component of thromboplastin, Christmas factor), which is also involved in the formation of active thrombokinase in phase I of blood coagulation.
occurs with a frequency of 1-2% and is due to insufficiency of factor XI of blood coagulation (the precursor of thromboplastin). Other varieties of hemophilia account for less than 0.5% of cases; in this case, there may be a deficiency of various plasma factors: V (parahemophilia), VII (hypoproconvertinemia), X (Stuart-Prawer disease), etc.

The severity of the clinical course of hemophilia depends on the degree of insufficiency of the coagulation activity of plasma coagulation factors.

For severe hemophilia the level of the missing factor is up to 1%, which is accompanied by the development of severe hemorrhagic syndrome already in early childhood. A child with severe hemophilia has frequent spontaneous and post-traumatic hemorrhages in muscles, joints, and internal organs. Immediately after the birth of a child, cephalohematomas, prolonged bleeding from the umbilical process, melena can be detected; later - prolonged bleeding associated with eruption and change of milk teeth.
For moderate hemophilia in a child, the level of plasma factor is 1-5%. The disease develops at preschool age; hemorrhagic syndrome is moderately expressed, there are hemorrhages in the muscles and joints, hematuria. Exacerbations happen 2-3 times a year.
Mild form of hemophilia characterized by a factor level above 5%. The debut of the disease occurs at school age, often in connection with injuries or operations. Bleeding is rarer and less intense.

Symptoms of hemophilia

In newborns, signs of hemophilia can be prolonged bleeding from the stump of the umbilical cord, subcutaneous hematomas, cephalohematomas. Bleeding in children of the first year of life may be associated with teething, surgical interventions (incision of the frenulum of the tongue, circumcision). The sharp edges of milk teeth can cause biting of the tongue, lips, cheeks and bleeding from the mucous membranes of the oral cavity. However, in infancy, hemophilia rarely debuts due to the fact that breast milk contains a sufficient amount of active thrombokinase.

The likelihood of post-traumatic bleeding increases significantly when a child with hemophilia begins to stand up and walk. For children after a year, nosebleeds, subcutaneous and intermuscular hematomas, hemorrhages in large joints are characteristic. Exacerbations of hemorrhagic diathesis occur after infections (ARVI, chickenpox, rubella, measles, influenza, etc.) due to impaired vascular permeability. In this case, spontaneous diapedetic hemorrhages often occur. Due to constant and prolonged bleeding, children with hemophilia have anemia of varying severity.

According to the degree of decrease in the frequency of hemorrhage in hemophilia, they are distributed as follows: hemarthroses (70-80%), hematomas (10-20%), hematuria (14-20%), gastrointestinal bleeding (8%), hemorrhages in the central nervous system (5% ).

Hemarthrosis is the most common and specific manifestation of hemophilia. The first intra-articular hemorrhages in children with hemophilia occur at the age of 1-8 years after bruises, injuries or spontaneously. With hemarthrosis, pain syndrome is expressed, there is an increase in the volume of the joint, hyperemia and hyperthermia of the skin above it. Recurrent hemarthroses lead to the development of chronic synovitis, deforming osteoarthritis and contractures. Deforming osteoarthritis leads to disruption of the dynamics of the musculoskeletal system as a whole (curvature of the spine and pelvis, muscle hypotrophy, osteoporosis, hallux valgus, etc.) and to the onset of disability already in childhood.

With hemophilia, hemorrhages often occur in soft tissues - subcutaneous tissue and muscles. In children, persistent bruises on the trunk and limbs are found, and deep intermuscular hematomas often occur. Such hematomas tend to spread, since the outflowing blood does not clot and, penetrating along the fascia, infiltrates the tissues. Extensive and intense hematomas can compress large arteries and peripheral nerve trunks, causing intense pain, paralysis, muscle atrophy, or gangrene.

Quite often, with hemophilia, bleeding occurs from the gums, nose, kidneys, and gastrointestinal organs. Bleeding can be initiated by any medical manipulation (intramuscular injection, tooth extraction, tonsillectomy, etc.). Extremely dangerous for a child with hemophilia are bleeding from the throat and nasopharynx, as they can lead to airway obstruction and require an emergency tracheostomy. Hemorrhages in the meninges and brain lead to severe CNS damage or death.

Hematuria in hemophilia can occur spontaneously or as a result of trauma to the lumbar region. At the same time, dysuric phenomena are noted, with the formation of blood clots in the urinary tract - attacks of renal colic. In patients with hemophilia, pyeloectasia, hydronephrosis, pyelonephritis are often found.

Gastrointestinal bleeding in patients with hemophilia may be associated with the use of NSAIDs and other drugs, with exacerbation of the latent course of gastric and duodenal ulcers, erosive gastritis, hemorrhoids. With hemorrhages in the mesentery and omentum, a picture of an acute abdomen develops, requiring differential diagnosis with acute appendicitis, intestinal obstruction, etc.

A characteristic sign of hemophilia is the delayed nature of bleeding, which usually does not develop immediately after the injury, but after some time, sometimes after 6-12 or more hours.

Diagnosis of hemophilia

Diagnosis of hemophilia is carried out with the participation of a number of specialists: neonatologist, pediatrician, geneticist, hematologist. If a child has concomitant pathology or complications of the underlying disease, consultations are held with a pediatric gastroenterologist, pediatric orthopedic traumatologist, pediatric otolaryngologist, pediatric neurologist, etc.

Married couples who are at risk of having a child with hemophilia should undergo medical genetic counseling at the stage of pregnancy planning. The analysis of genealogical data and molecular genetic research can reveal the carriage of a defective gene. It is possible to carry out prenatal diagnosis of hemophilia using chorionic biopsy or amniocentesis and DNA testing of cellular material.

After the baby is born, the diagnosis of hemophilia is confirmed by laboratory tests of hemostasis. The main changes in coagulogram parameters in hemophilia are represented by an increase in blood clotting time, APTT, thrombin time, INR, recalcification time; a decrease in PTI, etc. The decisive factor in the diagnosis of a form of hemophilia belongs to the determination of a decrease in the procoagulant activity of one of the coagulation factors below 50%.

With hemarthrosis, a child with hemophilia undergoes an X-ray of the joints; with internal bleeding and retroperitoneal hematomas - ultrasound of the abdominal cavity and retroperitoneal space; with hematuria - a general analysis of urine and ultrasound of the kidneys, etc.

Treatment of hemophilia

With hemophilia, complete elimination of the disease is impossible, therefore, the basis of treatment is hemostatic replacement therapy with concentrates of VIII and IX blood coagulation factors. The required dose of the concentrate is determined by the severity of hemophilia, the severity and type of bleeding.

In the treatment of hemophilia, two directions are distinguished - preventive and “on demand”, during the period of manifestations of the hemorrhagic syndrome. Prophylactic administration of clotting factor concentrates is indicated for patients with severe hemophilia and is carried out 2-3 times a week to prevent the development of hemophilic arthropathy and other bleeding. With the development of hemorrhagic syndrome, repeated transfusions of the drug are required. Additionally, fresh frozen plasma, erythromass, hemostatics are used. All invasive interventions in patients with hemophilia (suturing, tooth extraction, any operations) are carried out under the guise of hemostatic therapy.

With minor external bleeding (cuts, bleeding from the nasal cavity and mouth), a hemostatic sponge, applying a pressure bandage, treating the wound with thrombin can be used. With uncomplicated hemorrhage, the child needs complete rest, cold, immobilization of the diseased joint with a plaster splint, in the future - UHF, electrophoresis, exercise therapy, light massage. Patients with hemophilia are recommended a diet enriched with vitamins A, B, C, D, calcium and phosphorus salts.

Prevention involves medical genetic counseling for couples with a burdened family history of hemophilia. Children with hemophilia should always have a special passport with them, which indicates the type of disease, blood type and Rh-affiliation. They are shown a protective regime, prevention of injuries; dispensary observation of a pediatrician, hematologist, pediatric dentist, pediatric orthopedist and other specialists; observation in a specialized hemophilic center.

Hemophilia is a disease of the hemostasis system inherited from generation to generation, characterized by impaired synthesis of coagulation factors VIII, IX or XI, the deficiency of which causes a slowdown in blood clotting time and increases the duration of bleeding. The carrier of hemophilia is the female, while men are mostly ill with it. Boys born to such a woman in 50% of cases inherit such a disease. In the carrier itself, signs of the disease are usually not observed.

In medicine, according to the type of missing clotting factor in the blood, the following types of disease are distinguished:

hemophilia A. Manifested in the absence of a specific protein - antihemophilic globulin, which is a coagulation factor VIII. This type is the most common - hemophilia A occurs in 1 out of 5,000 males;
hemophilia B. The occurrence of this type of hemophilia is due to a deficiency or absence of the Christmas factor, or factor IX. Hemophilia B in newborn boys is recorded in 1 out of 30,000 cases;
Hemophilia C is a rare form of the disease characterized by the absence of clotting factor XI. Girls suffer from this type, whose mother is the carrier of the mutated gene, and the father is sick with hemophilia. Occurs in 5% of cases.

The onset of the disease, as a rule, occurs in infancy, causing the formation of pathological bleeding, which is longer than similar processes in healthy people. Therefore, this disease is one of the most significant in modern pediatrics.

Causes of the disease

The etiology of this disease is currently not fully understood. It is assumed that the cause of hemophilia is due to a mutation of a recessive gene located on the X chromosome. He is responsible for the production of the antihemophilic factor, its transmission occurs by inheritance from a woman who is the carrier of the disease (with a set of two X chromosomes) to a man (with one X chromosome). Receiving an X-linked mutated hemophilia gene from their mother, boys become carriers of the disease and can pass it on to their future offspring.

Hemophilia can be characterized by long-term bleeding caused by the absence of clotting factors and a sufficient number of platelets. Their deficiency predetermines the difficulty of hemostasis.

According to statistics, up to 80% of mothers - carriers of hemophilia, "gift" the mutated gene to their sons. But among male children with this blood clotting lesion, boys were found whose parents are not carriers of the disease. Therefore, we can conclude that hemophilia appeared in them in the process of formation of the germ cells of their parents. Consequently, the disease can be transmitted not only by inheritance, but there is also a certain probability of its independent appearance.

Symptoms of hemophilia

The first and main symptom of the disease is bleeding, which can be observed in different age groups. The following symptoms are also characteristic of this disease:

recurrent nosebleeds;
detection of blood elements in urine and feces;
extensive hematomas formed after minor injuries;
persistent bleeding resulting from tooth extraction or injury;
hemarthrosis (intra-articular bleeding) causes blood to reflux into the joints, causing limitation of its mobility and swelling.

Symptoms of the disease in childhood

Hemophilia in children of a severe degree develops during the first year of their life. Its symptoms are as follows:

bleeding from the umbilical wound;
hematomas, which, having an initially point character, spread to different parts of the body and are localized both subcutaneously and on the mucous membranes;
bleeding that occurs after preventive vaccinations and other injections.

In addition to the above signs of the disease, in children starting from 2–3 years of age, symptoms such as articular, as well as small capillary hemorrhages (petechiae), which form for no reason with little physical exertion, can be observed. Hemophilia in children from 4 years old to school age is often represented by:

recurrent nosebleeds;
discharge from the gums;
the periodic presence of blood in the urine (hematuria), the indicator of which is above the normal threshold;
extensive bruising (hemarthrosis), the development and long course of which contributes to the appearance of chronic contractures, arthropathy, and synovitis;
the detection of blood elements in the child's feces, indicating the initial stage of progressive anemia;
progression of bleeding localized in the internal organs;
possible hemorrhages inside the brain, carrying the threat of severe damage to the central nervous system. Children with this complication are characterized by reduced appetite, lean physique and indiscipline.

In such children, the development of non-intensive, but prolonged bleeding, which is formed after intramuscular injection, is possible. Therefore, they are recommended to be vaccinated and administer drugs subcutaneously, using a thin needle.

The danger of the disease, in addition to impaired hemostasis, consists in possible complications:

leukopenia;
hemolytic anemia;
disabling renal failure;
thrombocytopenia.

Due to the low immune response of the body that has developed as a result of this disease, children with hemophilia often develop various complications with age.

Symptoms of the disease in women

Although the incidence of hemophilia in girls and women is extremely low, it is not completely excluded. Its course is mild, and the most common symptoms of the disease are as follows:

copious menstrual flow;
bleeding that occurs after the removal of the palatine tonsils or tooth;
nosebleeds;
von Willebrand's disease, which causes unexplained episodic bleeding.

Symptoms of the disease in men

In adulthood, the disease only progresses. In addition to the signs of the disease already present since childhood, new symptoms are added to it, causing much more harm to the body:

retroperitoneal bleeding. Their development provokes the appearance of acute diseases of the peritoneal organs, resolvable only by surgery;
the formation of bruises, indicating both subcutaneous and intramuscular hemorrhages. Their danger lies in the compression of the vessels supplying the tissues, which leads to tissue necrosis. There is also a risk of blood poisoning due to infection in it;
posthemorrhagic anemia caused by nasal, gastrointestinal bleeding, bleeding from the gums, as well as urinary canals;
hemorrhages in the bone tissue, leading to its necrosis;
gangrene and possible paralysis resulting from giant hematomas;
bleeding of the mucous lining of the throat, as well as the larynx. May occur with tension of the vocal cords, as well as coughing;
articular hemorrhages contribute to the progression of osteoarthritis, which ultimately leads to disability. The reason for this is the limitation of joint mobility and atrophy of the muscles of the limbs.

To perform a surgical intervention, such patients are preliminarily injected with antihemophilic drugs to avoid large blood loss.

Diagnosis of the disease

Currently, the disease is successfully diagnosed by determining the nature of inheritance. And although the symptoms are the same for different types of the disease, however, hemophilia A and B - in men and C - in women is successfully differentiated through a set of laboratory tests, including:

determination of numerical indicators of blood coagulation factors;
thrombodynamics, which allows to detect such disorders of hemostasis as hypo- and hypercoagulation;
thrombin time, illustrating the activity of blood clotting factors;
mixed - APTT. Such a study allows to identify violations of hemostasis;
temporary blood clotting test;
analysis of the D-dimer index to exclude thromboembolism;
quantitative calculation of fibrinogen in the blood;
thromboelastography for registration of hemostasis and fibrinolysis processes;
The thrombin generation test illustrates the state of the hemostasis system.

Such an integrated approach to determining the type and severity of the disease allows you to choose the optimal treatment that helps to facilitate the course of life and prolong it.

Unfortunately, this disease in our time is incurable, it is only possible to carry out maintenance therapy and control periodically manifested symptoms. It is advisable to treat hemophilia in clinics specializing in this disease. In this case, the patient must have a "Book of the patient with hemophilia". It must necessarily contain data on the patient's blood group, his Rh factor, the type of disease and the severity.

Treatment of the disease must begin, first of all, with the definition of its type. Further therapy is based on the introduction of the missing clotting factors into the blood. They are obtained by taking donated blood, as well as the blood of animals grown under certain conditions specifically for these purposes. But here it is important to prevent an overdose of the factor, since it is possible to bring the patient to anaphylactic shock. So, the calculation should be carried out as follows: no more than 25 ml of clotting factor per 1 kg of the patient's weight, administered within 24 hours.

As a result of such treatment, the disease recedes for a short time, as there is a normalization of the quantitative indicators of the elements missing for successful hemolysis. This helps prevent the development of blood loss and minimizes the negative consequences.

During bleeding, based on the type of disease, doctors perform the following treatment:

in case of type A disease, a dry concentrate of "Cryoprecipitate", antihemophilic, as well as fresh plasma, transferred directly from the donor, is transfused;
in case of type B disease, the patient is given a concentrate of the missing coagulation factor, as well as fresh frozen donor plasma;
in type C disease, administration of dry fresh frozen plasma is necessary.

Further treatment of the disease is symptomatic:

in case of articular hemorrhages, it is important to cool the diseased joint by applying a cold compress, as well as immobilize it with a plaster splint for up to 3-4 days, and remove the consequences using UHF technology;
restoration of the musculoskeletal system affected by the disease is carried out with the help of physiotherapy, as well as achilloplasty and the synovectomy method;
uncomplicated bleeding is best treated with a state of complete rest and providing coolness for the patient;
capsular hematomas are removed surgically with parallel treatment with antihemophilic concentrates;
external bleeding is treated under anesthesia. The patient's wounds are cleaned of blood clots, washed with an antibacterial solution, and then a bandage is made with blood-stopping agents;
with hemophilia, treatment should include a diet consisting of foods rich in vitamins A, B, C and D, as well as trace elements (calcium, phosphorus), you can eat peanuts.

The most important thing in the fight against the disease is prevention. So families in which a mutated gene is found in women or men are diagnosed with this disease are not recommended to have children naturally. If a healthy woman is carrying a child from a male carrier of the disease, then for a period of 8 to 14-16 weeks after determining the sex of the baby, if it is a girl, it is recommended to terminate the pregnancy to prevent the spread of this pathology. The only way out here will be the implementation of the IVF procedure, carried out under certain conditions.

From an early age, people with hemophilia are advised to avoid injuries of various kinds, they are forbidden to engage not only in physical labor, but also to participate in traumatic sports such as hockey, boxing, football, etc. Of the sports disciplines, only swimming is allowed.

It is advisable to carry out prophylactic injections of the missing factors, but you can not often use painkillers, as addiction develops, and the body will not be able to cope with pain on its own in the future.

With this disease, it is strictly forbidden to take blood-thinning anti-inflammatory, antipyretic and other drugs, such as Indomethacin, Aspirin, Butazolidin, Brufen, Aspirin, etc.

Through prevention and treatment, hemophilia can be partially neutralized, but it is still impossible to completely get rid of its manifestations. But people with a similar diagnosis, subject to the prescriptions of a hematologist, as a rule, live to old age.

Is everything correct in the article from a medical point of view?

Answer only if you have proven medical knowledge

Hemophilia in children is a classic hereditary disease characterized by bleeding that recurs periodically and is difficult to stop. Bleeding occurs due to a lack of some of the functions of the blood coagulation system.

Forms of the disease

There are three types of hemophilia, which depend on a deficiency in the functions of the blood coagulation system. There is hemophilia A, which is characterized by a lack of globulin (antihemophilic) factor eight. Hemophilia B is associated with impaired blood clotting as a result of a small amount of the plasma thromboplastin component - the ninth factor. Hemophilia C is also distinguished, it is extremely rare and is associated with an insufficient amount of the plasma precursor thromboplastin, the eleventh factor.

Hemophilia B and A is inherited. Mostly men are affected by this disease. Often it is passed down to the grandson from the grandfather through the mother. In women, the classic form of hemophilia may occur - homozygotes born from a mother and father who has hemophilia. But this rarely happens. The daughters of a person with hemophilia are mostly only carriers of the disease.

Causes of the disease

Hemophilia is a hereditary disease, and can only be transmitted from a carrier mother. Sick carrier girls and sick boys can be born from the mother. But this is optional.

Symptoms of manifestation of hemophilia

Hemophilia can appear at any age. In the earliest stages, the disease can manifest itself in bleeding of the ligated umbilical cord in infants, cephalohematoma, hemorrhage into the skin, tissue under the skin. Children under one year of age who have hemophilia may experience bleeding during teething. But basically the disease makes itself felt after a year, during the period when the child becomes more active, learn to walk. As a result, the risk of injury increases. Bleeding is extensive, can spread, and hematomas (painful deep bleeding between muscles) often occur. They dissolve very slowly. The blood that has poured out does not thicken for a long time, it remains liquid. It can easily penetrate along fasciae and into tissues. Sometimes hematomas can be so massive that they can compress large arteries or peripheral nerve endings, and this can cause gangrene or paralysis. This whole process is accompanied by severe pain.

Hemophilia is characterized by prolonged bleeding from the nose, mouth, gums, sometimes even from the kidneys and gastrointestinal tract. Any medical procedure can also cause heavy bleeding, especially intramuscular injections. Very dangerous are hemorrhages from the mucous membrane of the larynx. As a result, acute airway obstruction occurs, sometimes even a tracheostomy is required. An outpouring of blood into the brain and its membranes can lead to death. It can also lead to complex CNS lesions.

Another sign of hemophilia is the outpouring of blood into the joints (hemarthrosis). The process is accompanied by an increase in body temperature with intense pain. Mostly there is a lesion of large joints: knee, hip, elbow, ankle. After the first outpouring of blood, after some time it gradually resolves, and the joint returns to normal functioning. After repeated hemorrhages, fibrinous clots appear. They are deposited on cartilage and on the joint capsule. After that, they become overgrown with connective tissue, as a result of which ankylosis is formed, the joint loses its functions.

In the presence of hemophilia, bleeding into the bone tissue sometimes occurs. This leads to bone decalcification and to aseptic tissue necrosis. With hemophilia, one can distinguish the hemorrhagic syndrome of the manifestation of the disease. It is characterized by a late but acute bleeding pattern. They appear some time after the grass, sometimes after 5-13 hours. It depends on the severity of the hemophilia and how intense the injury is.

In hemophilia, the cause of bleeding is impaired blood clotting in the first phase, thromboplastins are formed, as a result of a hereditary deficiency of antihemophilic factors. In hemophilia, the time it takes for blood to clot is increased to ten to thirty minutes. In rare cases, the blood may not clot for hours.

Diagnosis of hemophilia

Diagnose hemophilia against the background of the clinical picture, laboratory tests, family history. Among the laboratory studies, the following are important:

Decreased consumption of prothrombin;
Slow recalcification time;
Slow blood clotting time (capillary and venous);
Reduced amount of antihemophilic factors, at least one of them;
Impaired thromboplastin formation.

Treatment of hemophilia

The most important principle in the treatment of hemophilia is substitution therapy. At the onset of hemophilia A, blood is transfused from healthy relatives, or freshly prepared citrated blood is infused. It makes no sense to transfuse blood that has been stored for a long time, since the angio-mophilic globulin is rapidly destroyed during storage. Of the antihemophilic drugs, antihemophilic globulin, antihemophilic plasma and the concentration of the antihemophilic globulin preparation (cryo-precipitate) are often used, it is made from human blood plasma.

Remedies for hemophilia

If there is hemophilia C and B, then canned blood can be used, factors XI and IX are not destroyed during storage. If the patient has hemophilia B, then PPSB is used, it contains factors VII (proconvertin), II (prothrombin), X (Stewart-Prawer) IX (plasma thromboplastilin component). With local hemostasis, a hemostatic sponge, fibrin film, thrombin, human milk, which contains thromboplastin, are used. If a hemorrhage occurs in the joint, then the patient should be at rest, the affected area should be in the cold. If the hemorrhage is massive, then the joint is punctured with the introduction of hydrocortisone into the joint cavity and with blood aspiration. Further, it is recommended to massage the affected limbs, physiotherapy and therapeutic exercises. If the joint has lost function, then surgery is needed.

Prevention

This disease is not treated. You need to prevent bleeding. Patients with hemophilia should be registered in the dispensary. They must also have a document that indicates what type of hemophilia, what treatment was previously used and the effectiveness of its use.

If a child has hemophilia, then parents should be made aware of how to care for children with this disease and what first aid to provide. Such conditions must be created for the child in which he will develop normally as a person. Patients with hemophilia are not subject to physical labor, so it is necessary to develop mental abilities in a child.

The “royal” disease, as hemophilia is sometimes called, is very rare. After all, the likelihood that you will encounter it in real life is quite small. But for parents whose children receive such an entry in the medical record, this is unlikely to be any easier. And if so, it is worth talking about hemophilia in more detail: perhaps this will help to cope with the trouble and dispel the halo of hopelessness that has developed around the disease.

Definition and possible causes

If you turn to solid medical sources, it turns out that hemophilia is an extremely rare hereditary disease associated with a violation of blood clotting (coagulation). What is its danger and deceit, you ask? In the most banal cuts, abrasions, a visit to the dentist and in general any medical manipulation. The fact is that if normally blood coagulates in 3-5 minutes, then with hemophilia it takes much more time, which in the most severe cases can lead to death. In other words, such patients are forced to literally walk on the edge of a knife all their lives, and the procedure for removing a tooth turns almost into a feat for them.

At the same time, the opinion widespread among the people, according to which hemophilia is transmitted exclusively by inheritance, is not an unconditional truth. The fact is that in about 20% of cases it is not possible to detect any family ties, and the disease, although it has a genetic nature, is explained by a random mutation.

The mechanism that is responsible for the transmission of hemophilia is quite complex, and depends on whether the carrier of the mutant gene is a man or a woman.

The combination "healthy father / carrier mother" gives a 25% chance that a boy born in such a marriage will be sick. The chance of having a carrier daughter is the same, and the remaining 50% is evenly distributed between the birth of a healthy child, regardless of gender.

With a sick father and a healthy mother, the boys' children will be guaranteed to be healthy, and the girls, on the contrary, will become carriers.

If the father suffers from hemophilia and the mother is a carrier of the mutant gene, the situation is as follows. In a quarter of cases, a healthy son will be born, in 50% - a sick child (boy or girl), in 25% - a daughter who, being healthy, will remain a carrier for life.

Talking about the factors that can cause a mutation is beyond the scope of this material, and if cases of hemophilia in your family (at least 2 generations ago) are unknown, then with some reservations you can consider yourself safe. Why with some? The fact is that the remaining 20% of cases of hemophilia are spontaneous mutations, which science is not yet able to explain.

Subtleties of classification

To understand it, it is worth at least briefly describing the mechanism of blood clotting in the most ordinary person. 12 proteins, designated by numbers from I to XII, must participate in it (important note - it is “should”, and not “can”!) Participate. If the level of some of them is critically low (often down to zero), blood clotting is impaired. Therefore, until recently, solid sources pointed to three main types of disease:

Hemophilia A: lack of antihemophilic globulin (factor VIII). That is why it is called classical.
Hemophilia B: lack of plasma thromboplastin (factor IX). An alternative name is Christmas disease.
Hemophilia C: a precursor of plasma thromboplastin (factor XI).

The modern classification is somewhat different from the canonical one: the third type of hemophilia is excluded from it.. The reason for this is that its main symptoms, as well as the mode of inheritance, are completely different. Because hemophilia C is now considered a rare pathology of blood clotting - coagulopathy.

If we start not from the causes of the disease, but from the severity of clinical manifestations and the time of their appearance, the picture is as follows:

Easy form. The disease manifests itself as a result of serious injuries or surgical operations, and the quality of life of the patient is close to 100%.
Medium form. The whole complex of symptoms, leading to extensive hematomas and bleeding, occurs in childhood or adolescence.
Heavy form. The diagnosis is made in the first days of life, which makes the prognosis very unfavorable. Almost no adjustment is possible.

Symptoms and clinical manifestations

In the first few days and months of life:

Hemorrhage under the film that surrounds the outside of the bones of the skull (cephalohematoma).
Severe bleeding from the umbilical cord, which for a long time can not be stopped.
Subcutaneous or intradermal hematomas.
The appearance of the first teeth (most often around 6-8 months) is accompanied by significant bleeding.

In fairness, it should be noted that during this period, mother's milk maintains a normal level of blood clotting, because such symptoms, if there are no special reasons to suspect a problem, may go unnoticed.

After a year or two, when the baby begins to actively explore the world, the external manifestations of hemophilia begin to increase:

Painful hematomas appear even after minor falls and abrasions. They dissolve poorly, and respond poorly to specific therapy.
Unavoidable minor injuries or minor medical procedures lead to prolonged and profuse bleeding.
Recurrent nosebleeds for no apparent reason.
Bleeding gums.
Malfunctions of the gastrointestinal tract and digestive system.
Cold symptoms (fever, chills), not dependent on the season or external factors.

Symptoms found in a medical facility:

Presence of blood components in feces and urine.
Hemorrhages begin in large joints: knee, hip and shoulder. Most often, they are supplemented by pain, fever, swelling and decreased mobility. It is important to understand that the described effects do not appear immediately, but after 8-12 hours, since at the time of injury, platelets are included in the work.

Principles of effective diagnostics

Collecting an anamnesis to determine the presence of hemophilia in relatives.
An objective analysis of the patient's complaints or (if the baby is still too small) of his parents.
An in-depth general examination (the presence of abrasions, cuts and bruises; the condition of the joints and organs of the gastrointestinal tract).
If the preliminary diagnosis of "hemophilia" is confirmed, laboratory determination of the type of hemophilia.
Specialized study of blood parameters for coagulation.
Determination of the level of activity of VII, IX and XI clotting factors.
Consultation of narrow specialists: surgeon, hematologist, traumatologist, orthopedist, gastroenterologist, genetics.

Qualified differential diagnosis is of great importance, since thrombocytopenic purpura, von Willebrand's disease or thrombosthenia (Glantzman's disease) can be disguised as hemophilia.

Treatment

With regret, we have to admit that with the current level of development of medicine, there is no need to talk about a complete cure for hemophilia, regardless of its type. But at the same time - an important note - the widespread opinion among the people about the fatality of the disease is unfounded. Doctors have already learned how to maintain a normal standard of living for a small patient, because hemophilia in developed countries is no longer a sentence, but a diagnosis. What can doctors do to stabilize the situation?

Introduction of missing or missing blood factors. Most often, they are produced by yeast fungi with an implanted human gene.
Injections of cryoprecipitate - a special "cocktail" based on components of natural clotting factors.

Also, depending on the situation, auxiliary measures are used:

Specific methods to stop bleeding.
Complete immobilization of the limb in case of injury or muscle hematomas.
The most accurate removal of loose milk teeth.
Any surgical intervention is carried out under the supervision of a hematologist with the mandatory introduction of the missing clotting factors.
The use of special cow-stopping preparations in case of cuts, abrasions and injuries.
Plasmapheresis sessions, in which 400-500 ml of plasma is removed from the bloodstream, which, after repeated cleaning, are introduced back into the body.
Puncture of the damaged joint with blood extraction and injection of anti-inflammatory drugs into it. The procedure is quite painful, therefore it is usually performed under local anesthesia.
Consultations of a psychologist who will help parents with the social adaptation of the child

Traditional medicine recipes

Despite the fact that people have been using a variety of tinctures and herbal preparations for the treatment of hemophilia since ancient times, you must clearly understand the following: this disease requires mandatory medical attention and cannot be stopped in the acute stage by any herbal remedies. On the other hand, some plants have an obvious healing effect, therefore they are suitable as maintenance therapy. Once again, we will clarify: strictly after consultation with a doctor!

Women's milk. It is believed that it significantly accelerates the healing of wounds, for which you need to attach gauze soaked in it to the problem area. We will especially clarify: this method of treatment will be effective if the baby is more than 2 weeks old.
Infusion of elecampane roots. 2 tsp crushed and purified raw materials pour cold boiled water (400-500 ml) and let it brew for 8-10 hours. After this, the infusion should be filtered. Reception schedule - 50 ml 3-4 times a day 30 minutes before meals.

Decoction of peppercorn. 2 tbsp. l. pour raw materials with boiling water (1 cup) and put in a water bath for 15-20 minutes. Cool and infuse for 45 minutes at room temperature. It is recommended to take 60-70 ml three times a day.

Possible consequences and complications

High risk of death even in a specialized hospital.
Immobilization of the joints on the background of hemarthrosis.
Persistent and irreversible disability.
Numerous problems from the musculoskeletal system.
Upper airway stenosis and asphyxia.
Pathologies in the work of vital organs due to their compression.
Amyloidosis.
Decreased immunity, which leads to an increased risk of infection.
Pain syndrome that develops during ossification of soft tissues.
Obvious problems with social adaptation.

Prevention

Science does not know any effective methods for preventing hemophilia, therefore all recommendations for organizing a regimen for sick children usually come down to listing what they should not do: run, jump, play sports, go to physical education and expose the body to even minor physical exertion. To what extent such a “life” can be called full-fledged is an open question.

But what should not be forgotten categorically is a special passport, which should contain the following information: blood type, Rh factor and type of disease. Regular visits to the pediatrician, dentist, orthopedist and hematologist are also strictly required. If necessary, a course of treatment in a specialized hemophilic center.

Special mention deserves the verification of couples entering into marriage. We do not consider ourselves entitled to give advice like “refuse the wedding if the bride or groom is a carrier of defective genes. And even more so, we do not call for divorce. But it is possible and necessary to be aware of the potential presence of a problem in order to be able to correct the sex of the unborn child as a last resort.

Forecast

Conditionally unfavorable, although, we recall once again, hemophilia does not belong to the category of hopeless. With a mild form of the disease, the duration and quality of life practically do not differ from those for healthy people. With moderate and severe forms, the situation is sadder, since it is often very difficult to stop massive internal bleeding. Moreover, frequent transfusions greatly increase the risk of transmission of HIV, hepatitis and herpes. And the immunosuppressants used at the same time significantly reduce the body's resistance.

Hemophilia is a difficult diagnosis. It will require from the parents of a sick child maximum dedication, perseverance and confidence that everything will be fine. To date, this disease is incurable, but with adequate diagnosis, organization of the child's life and compliance with absolutely all recommendations, it is possible to significantly reduce the likelihood of death. Yes, and the latest scientific developments inspire physicians with restrained optimism.