home Audience 1 Hemophilia: causes, manifestations, types, transmission patterns, diagnosis, treatment. Genetic hemophilia - “the royal disease”

Hemophilia: causes, manifestations, types, transmission patterns, diagnosis, treatment. Genetic hemophilia - “the royal disease”

Hemophilia: what does this word mean? A disease in which the first phase of blood clotting is disrupted is called hemophilia. This is a genetic disease that has its own characteristics and causes.

If bleeding occurs, the body reacts in a special way, preventing significant blood loss, which can be life-threatening. promote special substances that trigger the coagulation mechanism. These are proteins that promote the connection of platelets and clogging of damaged tissue areas. This stops the bleeding. There are 12 coagulation factors.

The etiology of hemophilia means that there is not enough protein in the blood, which is responsible for blood clotting and prevents the possibility of prolonged bleeding. Depending on which clotting factor is missing, the disease is divided into special types. Depending on this, it is assigned necessary treatment and practical recommendations from the attending physician are given.

Hemophilia A is a deficiency of factor VIII. This type of disease is called classical hemophilia; doctors encounter this pathology in 85% of cases. Hemophilia B involves problems with factor IX. Until recently, another type was identified - hemophilia B, but its manifestations are quite specific, and this type of hemophilia is currently among the similar diseases not considered. Despite the classification differences, the first two types of the disease manifest themselves in the form of increased bleeding and are noticed already in infancy.

The disease is also differentiated by severity. It depends on how deficient a particular clotting factor is in a given person.

Symptoms indicating a problem

Clinical symptoms characteristic of the disease are:

The appearance of large bruises after a blow or without cause.
Spontaneous occurrence of intra-articular and intramuscular bleeding. In this case, the elbow, ankle and knee joints are most often affected.
, arising suddenly, without reason.
High duration of bleeding after traumatic influences (for example, operations, large cuts, tooth extraction).
Sudden heavy nosebleeds.
Hematuria.

Characteristic aspects of the disease

Signs such as bleeding in muscles or joints may appear as swelling, stiffness or pain. Sometimes the patient cannot accurately determine the features of the condition that he characterizes as “strange.”

Similar signs are pronounced in infancy. Newborns experience prolonged bleeding from the umbilical cord. Upon examination, bruises are found on the head, perineum or buttock. These are warning signs of possible illness. Immediate examination is necessary to determine possible hemophilia, especially if cases of the disease are known among relatives. However, it is currently impossible to know for sure whether carriers of the disease will have a child with signs of this serious illness.

Before one year of age, bleeding appears in the child in the oral or nasal cavity; after 3 years, hemorrhages are observed in the muscle tissue or joints. At early school age, gums may bleed or internal organs. As they get older, their manifestations are less noticeable. But this does not mean that the disease goes away. The person continues to be at risk for bleeding; he must be extremely careful and follow all doctor’s recommendations.

There is a common misconception that the patient can die from excessive blood loss in the event of any scratch. This is not true: although problems with clotting and stopping bleeding exist, only large injuries are in danger, lacerations or surgical intervention (surgery, tooth extraction). If surgical intervention is absolutely necessary, the patient is prepared for this using special methods.

The disease can provoke heavy blood loss not only immediately at the time of tissue injury, but even after a significant period of time. Repeated bleeding occurs even after a few days.

The most “expressive” signs of hemophilia are bleeding in the joints. Bruising in these areas or in the muscle tissue looks like a tumor. Such formations do not disappear quickly; sometimes they persist for up to 60 days.

The manifestation of hematuria () may not cause significant discomfort, but in some cases it is accompanied by severe pain. This is explained by the passage blood clots through the urinary system.

Complications of hemophilia

Complications of hemophilia are that the disease is not only dangerous, but also diseases that subsequently develop. Extensive “bruises” can put pressure on tissues and nerve fibers, disrupt the sensitivity of the affected area, and create problems with movement.

Constant hemorrhages affect the joints and cause hemarthrosis, and then problems with the entire musculoskeletal system. Initial signs This disease can be noticed already at early school age. The speed at which the problem manifests depends on the severity of the underlying disease. Mild course hematuria is fraught with the occurrence of joint hemorrhages only after injury. A severe form of the disease causes spontaneous bleeding. With significant development of hemarthrosis, the patient may be at risk of disability.

Hematuria leads to hydronephrosis, pyelonephritis or capillary sclerosis.

Serious blood loss causes the formation. Despite the fact that the risk of hemorrhages in the cerebral region is quite small, the risk of stroke remains. People diagnosed with hemophilia need to protect themselves from even minor head injuries.

Causes of hemophilia

If we consider the causes of hemophilia, it is a hereditary disease. The gene that causes pathological changes in the body is located on the X chromosome. The hemophilia gene is recessive. And since it can only be found on the X chromosome, the disease affects only men. But women are carriers of the pathology and can give birth to sick children (boys) or carriers of hemophilia (girls). This phenomenon is called “sex-linked inheritance.” If a man has the disease and a woman does not, their daughters will become carriers of the affected gene. Boys in such a family are born healthy. If a mother has a similar gene mutation, then the probability of her transmitting the disease to her sons is 50%. Daughters in this case also inherit this problem as carriers.

There are cases of sporadic hemophilia - the birth of a sick child in a family that has not observed other cases of the disease. Hemophilia in women is extremely rare. Only one recorded historical fact- the presence of this pathology in Queen Victoria. But her acquisition of the disease was not hereditary. The disease was the result of damage to genes in the woman’s body.

About 30% of cases of pathology - gene mutations in the body of the patient himself. But it is absolutely impossible to become infected with hemophilia.

Diagnosis of hereditary disease

If your family has already encountered a similar problem, then great importance acquires a family history. This information allows us to predict the birth of a child with similar genetic characteristics.

To diagnose hemophilia, modern medicine uses laboratory tests. Basically, diagnosis involves:

Mixed - APTT.
TV (thrombin time) is determined.
The PTI (prothrombin index) is determined.
Calculated.
The number of coagulation factors is calculated.
The quantity is determined.
The INR (international normalized ratio) is determined.
APTT (activated partial thromboplastin time) is calculated.

Some of these indicators will be higher than the established norm (for example, clotting time or TV). Other data will show values below normal (prothrombin index). The main information according to which the presence of a problem can be determined is the indicator of low concentration (or activity) of the clotting factor.

Treatment of hemophilia

When diagnosed with hemophilia, treatment as such is not carried out. This disease cannot be cured. However, this does not mean a “sentence” for a patient with hemophilia. The person’s condition must be monitored and timely treatment measures taken to relieve severe consequences. With the modern state of medicine, this can be done very effectively. By injection, the patient is given a solution of the coagulation element, the lack of which causes danger. Bleeding stops when the amount of the required substance reaches the norm. Sometimes they practice the injection of blood plasma (fresh or frozen). In some cases, blocking the vessel with bioglue or a special dressing is sufficient.

Medicines are obtained from donated blood. But now the necessary substances can be produced by methods developed in genetic engineering. This avoids the risk of infection viral infection(as is the case with donated blood products). With timely treatment, hemophilia patients can live long and fulfilling lives. However, the cost of medicines is very high. People with an identified disease need the support of special programs that have been established and operate in many countries of the civilized world.

Based on the type of disease, doctors may provide the following symptomatic treatment:

For type A, transfusions of dry concentrates such as cryoprecipitate and antihemophilia plasma are performed.
For type B, a concentrate of the missing clotting factor is administered.
For type C, the introduction of dried donor plasma is often recommended.

Procedures are actively used that can significantly make the life of a person suffering from hemophilia:

Reducing pain in the affected joint (application of a cold compress, fixation with a plaster splint).
Physiotherapy to ensure restoration of the musculoskeletal system.
A diet high in vitamins A, B, C and D, as well as essential microelements.

Treatment of hemophilia is strictly incompatible with the use of any blood thinning medications. These include anti-inflammatory, painkillers and antipyretic drugs: Aspirin, Brufen, etc.

(haemophilia) – hereditary pathology from the group of coagulopathies, leading to disruption of the synthesis of VIII, IX or XI factors responsible for blood clotting, resulting in its insufficiency. The disease is characterized by an increased tendency to both spontaneous and cause-based hemorrhages: intraperitoneal and intramuscular hematomas, intra-articular (hemarthrosis), bleeding digestive tract, inability to clot blood due to various even minor injuries to the skin.

The disease is relevant in pediatrics, as it is detected in young children, most often in the first year of a baby’s life.

The history of hemophilia goes deep into antiquity. At that time it was widespread in society, especially in royal family both Europe and Russia. Entire dynasties of crowned males suffered from hemophilia. This is where the terms “ hemophilia crowned" And " royal illness».

Examples are well known - Queen Victoria of England suffered from hemophilia, and passed it on to her descendants. Her great-great-grandson was the Russian Tsarevich Alexei Nikolaevich, the son of Emperor Nicholas II, who inherited the “royal illness.”

Etiology and genetics

The causes of the disease are associated with mutations in a gene that is linked to the X chromosome. As a result of this, antihemophilic globulin is absent and a deficiency of a number of other plasma factors that make up active thromboplastin appears.

Hemophilia has a recessive type of inheritance, that is, it is transmitted through the female line, but only men get it. Women also have a damaged gene, but they do not get sick, but act only as its carrier, passing the pathology on to their sons.

The appearance of healthy or sick offspring depends on the genotype of the parents. If in a marriage the husband is healthy and the wife is a carrier, then they have a 50/50 chance of having both healthy and hemophiliac sons. And daughters have a 50% chance of getting the defective gene. In a man suffering from the disease and having a genotype with a mutated gene, and healthy woman Daughters who carry the gene and completely healthy sons are born. Girls with congenital hemophilia can be born from a carrier mother and an affected father. Such cases are very rare, but still occur.

Hereditary hemophilia is detected in 70% of cases of the total number of patients, the remaining 30% account for the detection of sporadic forms of the disease associated with a mutation in the locus. Subsequently, such a spontaneous form becomes hereditary.

Classification

Hemophilia code according to ICD-10 – D 66.0, D67.0, D68.1

Types of hemophilia vary depending on the deficiency of one or another factor contributing to hemostasis:

Hemophilia type A(classical). Characterized by a recessive mutation of the F8 gene on the sex X chromosome. This is the most common type of disease, occurring in 85% of patients, and is characterized by a congenital deficiency of antihemophilic globulin, leading to a failure in the formation of active thrombokinase.

Christmas disease or hemophilia type B is associated with a deficiency of factor IX, otherwise called the Christmas factor, a plasma component of thromboplastin, also involved in the formation of thrombokinase. This type of disease is detected in no more than 13% of patients.

Rosenthal disease or hemophilia type C(acquired) is distinguished by an autosomal recessive or dominant type of inheritance. In this type, factor XI is defective. It is diagnosed in only 1–2% of the total number of patients.

Concomitant hemophilia– a very rare form with a simultaneous deficiency of factors VIII and IX.

Hemophilia types A and B are found exclusively in men, type C - in both sexes.

Other types, for example, hypoproconvertinemia, are very rare, accounting for no more than 0.5% of all patients with hemophilia.

Clinical manifestations

The severity of the clinical course does not depend on the type of disease, but is determined by the level of the deficient antihemophilic factor. There are several forms:

Light, characterized by a factor level from 5 to 15%. The onset of the disease usually occurs during school years, in in rare cases after 20 years, and is associated with surgery or injury. Bleeding is rare and mild.

Moderate. With a concentration of antihemophilic factor up to 6% of normal. Appears in preschool age in the form of a moderately pronounced hemorrhagic syndrome, worsening up to 3 times a year.

Heavy is set when the concentration of the missing factor is up to 3% of the norm. Accompanied by severe hemorrhagic syndrome from early childhood. A newborn baby has prolonged bleeding from the umbilical cord, melena, and cephalohematoma. As the child develops, post-traumatic or spontaneous hemorrhages in the muscles, internal organs, and joints occur. Prolonged bleeding from the eruption or replacement of baby teeth is possible.

Hidden (latent) form. With a factor indicator exceeding 15% of the norm.

Subclinical. The antihemophilic factor does not decrease below 16–35%.

In young children, bleeding can occur from biting the lip, cheek, or tongue. After infections (chickenpox, influenza, ARVI, measles), exacerbations of hemorrhagic diathesis are possible. Due to frequent and prolonged bleeding, thrombocytopenia and anemia of varying types and severity are detected.

Characteristic signs of hemophilia:

Hemarthrosis - excessive bleeding into the joints. In terms of the purity of hemorrhages, they account for from 70 to 80%. Most often the ankles, elbows, and knees are affected; less commonly, the hip, shoulder, and small joints of the fingers and toes are affected. After the first hemorrhages into the synovial capsules, the blood gradually resolves without any complications, and the function of the joint is completely restored. Repeated bleeding leads to incomplete resorption, the formation of fibrinous clots deposited in the joint capsule and cartilage with their gradual germination by connective tissue. It manifests itself as severe pain and limitation of movement in the joint. Recurrent hemarthrosis causes obliteration, joint ankylosis, hemophilic osteoarthritis and chronic synovitis.

Bleeding into bone tissue results in bone decalcification and aseptic necrosis.

Hemorrhages into muscles and subcutaneous tissue (from 10 to 20%). Blood leaking into the muscles or intermuscular spaces for a long time does not fold, so it easily penetrates the fascia and nearby tissue. Clinic of subcutaneous and intramuscular hematomas - poorly absorbable bruises of various sizes. Gangrene or paralysis, which appears as a result of compression by voluminous hematomas, are possible as complications. large arteries or peripheral nerve trunks. This is accompanied by pronounced pain syndrome.

Statistics
In Russia, there are about 15 thousand men with hemophilia, of which about 6 thousand are children. There are more than 400 thousand people living in the world with this disease.

Prolonged bleeding from the mucous membranes of the gums, nose, mouth, various parts of the stomach or intestines, as well as from the kidneys. The frequency of occurrence is up to 8% of the total number of all bleedings. Any medical manipulation or operation, be it tooth extraction, tonsillectomy, intramuscular injection or vaccination, ends in heavy and prolonged bleeding. Bleeding from the mucous membrane of the larynx and pharynx is extremely dangerous, as this can result in obstruction of the respiratory tract.

Hemorrhages in different parts of the brain and meninges lead to disorders of the nervous system and corresponding symptoms, often ending in the death of the patient.

Hematuria is spontaneous or due to lumbar injuries. Found in 15–20% of cases. Symptoms and disorders that precede it are urinary disorders, pyelonephritis, hydronephrosis, pyelectasia. Patients pay attention to the appearance of blood in the urine.

Hemorrhagic syndrome is characterized by a delayed appearance of bleeding. Depending on the intensity of the injury, it may occur after 6–12 hours or later.

Acquired hemophilia is accompanied by impaired color perception (color blindness). Found in childhood rarely, only with myeloproliferative and autoimmune diseases when antibodies to the factors begin to be produced. In only 40% of patients it is possible to identify the causes of acquired hemophilia, these include pregnancy, autoimmune diseases, taking certain medications, malignant neoplasms.

If the above manifestations appear, a person should contact a specialized center for the treatment of hemophilia, where he will be prescribed an examination and, if necessary, treatment.

Diagnostics

At the pregnancy planning stage, future parents can undergo a medical genetic consultation with molecular genetic research and collection of genealogical data.

Perinatal diagnosis consists of amniocentesis or chorine biopsy followed by DNA testing of the resulting cellular material.

The diagnosis is established after a detailed examination and differential diagnosis patient.

A physical examination with inspection, auscultation, palpation, and collection of a family history is required to identify possible inheritance.

Laboratory studies of hemostasis:

Coagulogram;
- quantitative determination of factors IX and VIII;
- definition of INR - international normalized ratio;
- blood test to calculate the amount of fibrinogen;
- thromboelastography;
- thrombodynamics;
- prothrombin index;
- calculation of APTT (activated partial thromboplastin time).

The appearance of hemarthrosis in a person requires radiography of the affected joint, and hematuria requires additional examination of urine and kidney function. Ultrasound diagnostics is carried out for retroperitoneal hemorrhages and hematomas in the fascia of internal organs. If cerebral hemorrhages are suspected, a CT or MRI is required.

Differential diagnosis includes Glyantzmann's thrombasthenia, thrombocytopenic purpura, von Willebrand's disease, and thrombocytopathy.

Treatment

The disease is incurable, but can be treated with hemostatic replacement therapy with concentrates of missing factors. The dose of the concentrate is selected depending on the degree of its deficiency, the severity of hemophilia, the type and severity of bleeding.

It is important to start treatment at the first bleeding. This helps to avoid many complications that require surgical intervention.

Treatment consists of two components - constant supportive or preventive and immediate, in case of manifestations of hemorrhagic syndrome. Maintenance treatment consists of periodic self-administration of antihemophilic factor concentrate intravenously. The task of doctors is to prevent the occurrence of arthropathy and bleeding in various parts of the body. In severe hemophilia, the frequency of administration reaches 2–3 times a week with preventive treatment and up to 2 times a day at most.

The basis of treatment is antihemophilic drugs, transfusions of blood and its components.

Hemostatic therapy for hemophilia type A involves the use of cryoprecipitate, a concentrate of antihemophilic globulin made from fresh frozen human plasma.
Hemophilia type B is treated with intravenous administration of PPSB, a complex drug that contains several factors, including prothrombin, proconvertin and the plasma component thromboplastin. In addition, fresh frozen plasma from the donor is administered.
For hemophilia type C, fresh frozen dry plasma is used.

Symptomatic treatment consists of prescribing glucocorticoids and angioprotectors. Supplemented by physical therapy. First aid for external bleeding includes local application of a hemostatic sponge, treatment of the wound with thrombin, and application of a temporary pressure bandage.

As a result of intensive replacement transfusion therapy, an inhibitory form of hemophilia occurs, characterized by the appearance of inhibitors to clotting factors that neutralize the antihemophilic factor administered to the patient, leading to the futility of treatment. The situation is saved by plasmapheresis and the administration of immunosuppressants.

In case of hemorrhage in the joint, rest for 3–5 days, non-steroidal anti-inflammatory drugs in tablets and topical glucocorticoids are recommended. Surgical treatment is indicated for irreversible dysfunction of the joint or its destruction.

Alternative Treatment

In addition to drug treatment, patients can be treated with traditional medicine. Prevention of bleeding can be done with the help of herbs that have an astringent property that helps strengthen the walls of blood vessels. These include yarrow, grape seed extract, blueberries, and stinging nettle.

To improve blood clotting, the following medicinal plants are taken: arnica, coriander, astragalus, dandelion root, Japanese Sophora fruits and others.

Complications

Complications are divided into groups.

Associated with hemorrhages:

a) intestinal obstruction or compression of the ureters by extensive hematomas;
b) deformations of the musculoskeletal system - muscle wasting, cartilage narrowing, pelvic curvature or spinal column as a complication of hemophilic osteoarthritis;
c) infection of hematomas;
d) obstruction of the airways.

Immune system related– the emergence of inhibitors of factors that complicate treatment.

More sick people are at risk of contracting HIV infection, herpes and cytomegalovirus infections and viral hepatitis.

Prevention

There is no specific prevention. Only drug prophylaxis is possible to prevent bleeding. When getting married and planning pregnancy, it is important to undergo medical and genetic counseling with all necessary examination .

Forecast

With a mild form, the prognosis is favorable. When severe, it worsens significantly. In general, it depends on the type, severity, timeliness of treatment and its effectiveness. The patient is registered and given disability status.

How long do people live with different types of hemophilia? The mild form does not affect the patient's life expectancy. Effective and permanent treatment for moderate and severe forms helps the patient live as long as healthy people live. Death occurs in most cases after hemorrhages in the brain.

Hemophilia is a disease in which the blood clotting mechanism is disrupted. The unusual frequency with which this disease occurs among different generations of the same family has long led to the suspicion that hemophilia is a hereditary blood disease. It has been established that women, without being sick themselves, transfer hemophilia from one family to another.

A typical example of the transmission of a disease through blood in women is European history is the family tree of Queen Victoria of England, from whom the disease spread to many other royal houses. The son of the last Russian Tsar suffered from this disease.

However, hemophilia does not only affect aristocratic dynasties. It can occur in any child who has a family member who suffered from this blood disease.

Hemophilia is a congenital hereditary disease. Of course, it is the most famous among genetically determined blood diseases.

Hemophilia is expressed in increased bleeding, be it as a result of external, even the smallest injuries, or internal bleeding in tissues, articular capsules etc. An injury that causes almost unstoppable bleeding can be extremely minor.

This blood disease has serious consequences for internal organs and joints, causing concomitant diseases and abnormalities.

The causes of hemophilia are genes

Hemophilia affected only men, while women were responsible for the genetic component that they passed on to their offspring. This mode of inheritance occurs due to the fact that the genetic predisposition to the disease is associated with the X chromosome.

Let's briefly look at the structure of sex chromosomes. In women, both have the same length and shape, so the pair of chromosomes is designated by the letters XX. In men, one of them is the same as in women, but the second has a different shape and length, for this reason the pair of chromosomes is called XY. Each offspring receives one chromosome from the mother and one from the father, with all the combinational possibilities that exist in this conformation. If a woman has a diseased X chromosome, that is, one associated with a predisposition to a blood disease, then this has no direct consequences for the carrier, since this chromosome is compensated by the second, healthy one. The woman herself does not have any symptoms, but she can pass on her predisposition to the disease by inheritance. And if a man inherits this diseased X chromosome, then its defect is not compensated by the second healthy chromosome. Therefore, he exhibits hemophilia. If both of a woman's X chromosomes had a genetic defect, she would not be viable.

The X chromosome carries the genetic information that is necessary for the fetus to develop normal factors blood clotting. In a hemophiliac, it is in this place that there is a defect in the genetic information. This pathological hereditary predisposition causes a bleeding disorder, which is the basis of hemophilia.

It is known that in a normal individual, bleeding resulting from a wound soon stops due to the action of three mechanisms: the blood vessels constrict, platelets are deposited in the injured area and the blood clots, thus closing open wound.

Blood coagulation is a complex biochemical process in which fibrinogen, a protein contained in plasma, changes its structure. This occurs under the influence of various factors, among which the release of tissue thromboplastin is very important. The formation of thromboplastin occurs with the help of numerous substances that are found in small quantities in the blood. One of them, factor VIII, or antihemophilic factor (AHF), is absent or insufficiently present in those affected by hemophilia. The term hemophilia actually refers to two diseases that have the same symptoms but different causes.

Types of hemophilia

There are two types of hemophilia, namely:

Hemophilia A, or classical hemophilia
Hemophilia B, or Christmas disease
Hemophilia C is an extremely rare type that mainly affects Jews

The second type is less common. Type A lacks factor VIII, hemophilia B we're talking about about factor IX, or plasma thromboplastin, called Christmas factor. It is also important for blood clotting, and it becomes almost impossible in its absence.

The third type occurs due to a deficiency of factor XI. Due to the non-standard clinical picture, not so long ago this type was isolated separately and is not included in the types of hemophilia.

What is acquired hemophilia?

Hemophilia is inherited. However, cases have been recorded when manifestations of this disease were observed in adults who had not been sick before and did not have patients in their family. Acquired hemophilia is always type A. In half of the cases, doctors were never able to understand the cause of the disease. In other cases the reason was cancerous tumors, taking certain medications and other reasons that cannot be systematized.

Signs, symptoms and clinical picture of hemophilia

Clinical picture characterized by an increased tendency of patients to lose blood. Within a few days after birth, bleeding may appear that does not stop, which puts the life of the newborn at risk. But in some cases, hemophilia only appears when the child starts running. Then parents may observe an increased tendency to bruises, hematomas and bleeding in the skin and mucous membranes after banal microtraumas, such as light shocks, contusions, etc., which indicates this blood disease.

At this age, nosebleeds or bleeding of the oral mucosa (tooth eruption) are also common. In older children, heavy bleeding follows tooth extraction or tonsillectomy. These are the first signs of hemophilia. Bleeding can also occur in internal organs - the liver, spleen, intestines, kidneys and brain, or, as is often the case, in the joints.

In this case, they talk about hemophilic arthropathy or hemarthrosis. As a result of such intra-articular bleeding, especially in the knee, there is a danger of destruction of bones and cartilage and significant limitation of movements of the affected joint, up to their complete absence.

Hemophilia is a disease in which symptoms can occur with varying intensity. The severity of symptoms is proportional to the severity genetic defect. If this blood clotting factor is completely absent, the patient is at extreme risk. In severe cases, death occurs in early childhood due to cerebral hemorrhage, too much blood loss after injury, or even because blood accumulates in the neck, leading to suffocation.

As the child grows up, he becomes more and more aware that he is sick and learns to control his activity and, if possible, avoid accidents and injuries. If young patients survive early childhood, they can rightfully hope for a long, active life. It is impossible to foresee more precisely how the disease will develop over time. For example, infections can further increase bleeding tendencies. Sometimes you can watch clinical course, which is characterized by the presence of several phases.

There is a period when injuries cause only slight loss of blood or even no bleeding at all, then again there comes a time when extensive, practically unprovoked bleeding occurs. Those. hemophilia and its symptoms can appear in waves.

Diagnostics

To be diagnosed with hemophilia, a person will have to visit certain specialists, such as a pediatrician, geneticist, hematologist and neonatologist. If the disease manifests itself in childhood, then you should additionally consult a pediatric gastroenterologist, otolaryngologist, traumatologist and neurologist.

If a married couple is at risk, then the best option is full examination at the stage of planning a child. To identify carriers of a defective gene, it is necessary to undergo a molecular genetic examination and be analyzed for genealogical data. The diagnosis can also be made using chorionic villus biopsy or amniocentesis, as well as DNA testing of cellular material.

After birth, diseases can be diagnosed using laboratory research hemostasis.

To clarify the diagnosis, tests may be required:

determining the amount of fibrinogen
determination of prothrombin index
thrombin time determination
definitions of mixed

Couples who are expecting a child and are at risk should consult with specialists and conduct appropriate research from the beginning and throughout pregnancy.

Hemophilia cannot be cured; a patient who suffers from this blood disease must fight the symptoms and pathologies caused throughout his life. That is, hemophilia is incurable disease.

It would be irresponsible not to explain to the parents of a child with hemophilia how dangerous this disease is. However, they should not think that their child is lost. Today, even a patient with hemophilia has the opportunity to lead an almost normal life.

To control the bleeding tendency, replacement therapy is necessary. This means that the missing clotting factor must be replaced by introducing it externally. This can be done by infusion of plasma or whole blood, or by using a concentrate of the factor itself (VIII or IX).

It is extremely important that clotting factor is administered as soon as possible when bleeding occurs. In some countries (USA, Scandinavia), many patients with hemophilia give themselves intravenous injections of plasma concentrate as soon as they notice the slightest bleeding, even before contacting the nearest specialized medical Center. Since it is difficult to obtain a sufficient amount of factor VIII, recently there has been an active search for methods for its genetic production.

Another possibility is agents that directly stimulate the production of factor VIII in the patient's body.

These therapeutic options ensure the safe performance of minor (tooth extraction, etc.) and major surgical operations in people suffering from hemophilia. Orthopedic treatment is also important, since all kinds of damage to bones or parts of joints are very common. They should be warned.

In addition, proper physical and mental education is necessary so that hemophiliacs do not become rejected groups of people in society because they cannot cope with everyday life.

Patients with hemophilia develop chronic arthropathy due to repeated bleeding in the joint cavity. This represents major complication given hereditary disease. More often it affects one of the knees, sometimes both, and thus can significantly limit the patient’s motor ability. In the future, these symptoms can definitely be improved through the systematic use of plasma concentrate, which will significantly reduce the symptoms of bleeding in the joint.

But even today, many patients with hemophilia suffer from the so-called hemophiliac joint. In some unfortunate patients, the only way to cure their ailment is synovectomy (removal of the synovial membrane of the joint, the pathological change of which as a result of bleeding becomes the main cause of hemophilic arthropathy. Some of the hemophiliacs after such an intervention were able to return to almost immobility after normal life.

In childhood, a reasonable choice of toys and types active work may be an extremely important measure in preventing traumatic episodes. At school age, a patient with hemophilia can, without special exceptions, take part in the normal educational process. He should not be excluded from any of the activities of other children. It is very important that he does not feel inferior while suffering from his illness, so that later he can lead an independent lifestyle. Throughout life, a hemophiliac adapts to his illness. He knows what restrictions it imposes, takes them into account and plans his activities accordingly. Most often, patients with hemophilia have above average intelligence.

Hemophilia in men

IN medical practice, male hemophilia does not have distinctive features. If the mother is the carrier of the altered gene, then the first signs of pathology can be diagnosed in early childhood. Boys experience minor bleeding that occurs even with minor injuries. More serious hemorrhages are indicated by bruising, which can provoke the formation of serious pathologies such as tissue necrosis.

If a man has hemophilia, then before any surgical intervention he must be given antihemophilic drugs, which help to avoid excessive blood loss.

The most serious hemorrhages are those that occur in the meninges. They can provoke severe forms of central nervous system damage and even lead to fatal outcome. Also, in men, retroperitoneal bleeding is classified as complex because it can cause acute pathologies that can only be eliminated surgically.

No less dangerous are bleeding that occurs in the larynx and throat from the mucous membranes. They can lead to severe attacks cough and tension of the vocal cords and, as a result, obstruction of the respiratory tract.

When joint hemorrhages occur in men, pain appears and the temperature rises to 38 degrees. Such deviations can cause osteoarthritis and atrophy of the muscles of the limbs.

Hemophilia in women

Hemophilia in women is diagnosed quite rarely. That is why character and characteristics are difficult to identify.

Cases of hemophilia in women are most often diagnosed if girls are born from a mother who is recognized as a carrier of the gene and a father suffering from this disease. As for the severity of the pathology, it fully corresponds to the degree of the deficiency factor. The following forms of pathology can be identified in women:

Severe – characterized by blood clotting rates less than 2%. Symptoms are most pronounced in childhood. The disease in this case can manifest itself as systematic attacks of hemorrhages in the muscles, joints and internal organs. Bleeding gums may occur during teething or changing teeth. As you get older, the signs progress rapidly.
Moderate - progression of the pathology occurs if the factor level varies from 2 to 5 percent. Then the symptoms are moderate and manifest as joint and muscle hemorrhages, and the frequency of exacerbation is once every few months.
Light – the value of the deficiency factor exceeds 5 percent. The first symptoms appear at school age as a result of surgery or injury. Bleeding is of low intensity and occurs relatively infrequently. During laboratory tests, the disease may not be detected.
Erased - does not show any signs. A person in such a case may not even suspect the disease. It is most often discovered only after any surgical intervention.

In women, even when pathology is detected, it occurs in a less severe form. The following signs indicate that a woman is a carrier of the gene and suffers from this disease:

intense discharge during menstruation;
nosebleeds;
bleeding that occurs after dental procedures;
blood clotting deficiency.

Hemophilia during pregnancy

Since hemophilia carries the possibility of significant blood loss, during pregnancy the processes can be not only unexpected, but sometimes irreversible. When a woman becomes pregnant, she must visit many specialists, such as an orthopedist, therapist, surgeon and geneticist. Childbirth should only take place in a specialized clinic under the close supervision of highly qualified specialists.

The tactics of delivery should be clearly defined already from the third trimester. In this case, all factors must be taken into account, such as the type of disease and the woman’s condition. All nuances must be carefully thought out and the likelihood of severe blood loss must be minimized, and a favorable delivery must be ensured.

Besides everything else, everyone possible ways The following risks must be excluded:

fatality during ;
formation of cerebral hemorrhages during childbirth;
the likelihood of vascular pathologies and infections;
development of articular pathological processes which can be caused by tissue deformation;
likelihood of joint immobility.

Almost nothing is currently known about the potential dangers to the fetus, except that the woman may experience heavy bleeding.

As practice shows, if childbirth takes place in normal mode, then in this case the likelihood of injuries and dangers is minimized, but there is always the possibility of exceptions, therefore, in case of hemophilia, all safety measures must be taken in advance, and childbirth should only be carried out by qualified doctors.

Complications

As a consequence of pathology or during therapy for hemophilia, a person may begin to develop certain complications. Bleeding can lead to anemia varying degrees gravity. It is not excluded deaths, this applies mainly to women who are about to have a caesarean section.

When a hematoma forms, gangrene may form or paralysis may develop. This occurs as a result of compression of blood vessels or nerves. Necrosis and osteoporosis, which appear due to frequent hemorrhages into bone tissue. With bleeding, airway obstruction may form. More are not excluded severe complications, such as hemorrhage, in the brain or spinal cord, which leads to death.

A complication of chronic hemophilia is arthropathy. It develops when bleeding occurs spontaneously and predominantly in one joint. Under the influence of blood components, inflammation of the synovial membrane occurs, which thickens over time, and outgrowths are formed on it, penetrating into the joint cavity. In the process of joint mobility, the outgrowths are pinched, which provokes new hemorrhages, but without injury. This leads to gradual destruction of the tissue cartilaginous joint and exposure of the bone surface. In some cases, there is a possibility of developing renal amyloidosis with subsequent chronic renal failure.

With this type of disease, infection with viral hepatitis and HIV infections is not excluded, but thanks to modern conditions And the latest methods cleaning, the risk of infection is minimized.

In rare cases, a person may experience a reaction from the immune system in the form of production of antibodies that stop the ability to maintain blood clotting. In medical practice, this is expressed as impracticability using replacement therapy stop bleeding.

Forecast

As for the prognosis, it will directly depend on how carefully a person treats his health and follows all the recommendations of specialists.

The prognosis for severe hemophilia worsens significantly if a person experiences rapid bleeding due to injury or surgery. Concerning mild degree hemophilia, then life expectancy remains the same and negative influence pathology does not affect the body.

The patient’s relatives must have an understanding of the characteristics of the disease and, if necessary, be able to provide first aid medical care.

Prevention

The main method of preventing hemophilia is consultation and a complete medical examination of couples immediately before marriage. In this case, a special gene diagnosis is carried out, the results of which reveal the probable risks of inheriting the pathology. If couples are diagnosed with the disease, they are not recommended to plan to conceive children. naturally.

If for some reason the diagnosis was not carried out before pregnancy, then it is advisable to organize the diagnosis after conception. Since subsequently, if hemophilia is detected in childhood, then treatment and preventive measures are appropriate.

Patients diagnosed with hemophilia should be under constant medical supervision. In this case, they are registered in early childhood. When a child is diagnosed with a disease, he is exempt from physical education, as there is a high risk of injury. But, despite all the restrictions, moderate physical activity must be present. They are necessary, especially for a growing organism, for normal functioning. There are no special dietary restrictions. The baby must be vaccinated against the maximum number of infections, but vaccinations are done only subcutaneously and with extreme caution, since after intramuscular injection Extensive hematomas may appear. The administration of live vaccines is allowed only after the introduction of blood clotting factors, from which at least one and a half months have passed. It is necessary to be systematically examined for viral hepatitis and HIV infection.

In order to minimize the risk of complications, you should try to avoid excessive physical activity, various injuries, as well as undergo all procedures recommended by the doctor and follow medication regimens. At viral diseases A patient with hemophilia is strictly prohibited from taking Aspirin, since this drug thins the blood and can cause bleeding. It is forbidden to take non-steroidal anti-inflammatory drugs such as Nurafen and Panadol. It is not yet recommended for a person to use cupping; they can cause bleeding in the lungs.

To prevent hemophilia, a person is given the missing blood factor at certain intervals. In some cases, special venous catheters can even be installed, which minimize the risk of injury.

Video materials

Hemophilia: Discovery Channel - Diseases and Deaths of Kings

Hemophilia. How modern medicine defeats it

Hemophilia is a serious disease with dangerous consequences. To avoid them, timely and qualified supervision and proper care are required. If this is ensured, a person with this diagnosis may well live full life and practically no different from everyone else. Thanks to modern methods Great success has been achieved in the treatment of pathology and scientists are not going to stop there. Due to the actively developing gene therapy It is possible that hemophilia will be defeated in the near future.

Hemophilia is a disease characterized by incoagulability of blood (this is how the word is translated from Greek). The disease is inherited. Bleeding and hemorrhage in this disease are prolonged, sometimes they occur spontaneously, without any apparent reason.

Fatal "legacy"

Any mention of hemophilia is primarily associated with the image of Tsarevich Alexei, the son of the last Russian Emperor Nicholas II. Alexei had hemophilia, having received it from his mother, Empress Alexandra Feodorovna, who inherited the disease from her mother, Princess Alice, who, in turn, received it from Queen Victoria. Queen Victoria was a carrier of hemophilia, but of her nine children, only one son, Prince Leopold, had hemophilia and died when he was thirty-one, and her daughters, Princesses Alice and Beatrice, were carriers of the disease.

Of Princess Beatrice's four sons, only two had hemophilia, and her daughter, Victoria Eugenie, wife of the King of Spain, passed the disease on to two of her three sons. Princess Alice's son, Frederick, one of seven children who inherited hemophilia, died at the age of three. Her sister Irene's two sons were also hemophiliacs, but one of them managed to live safely to the age of 56.

Monarch parents tried as best they could to protect their children from any injuries. For example, the Spanish royal family dressed their two boys in cotton-lined suits; even the trees in the park where children usually played were wrapped in felt. Nicholas II and his family were also forced to take precautions, surrounding themselves with a narrow circle of people initiated into the secret of the disease, and isolating themselves from the outside world with a high iron grille that surrounded the palace park in Tsarskoe Selo. However, this could not protect the prince from bruises and abrasions, and the parents simply fell into despair, realizing that they were constantly living on the brink of disaster.

Many years ago.

The hereditary nature of the disease, transmitted through the maternal line, was indirectly indicated in the Talmud, a set of religious treatises of Judaism, where the following was literally written: “If one mother has two children who die from circumcision, then her third son is free from this circumcision - it doesn’t matter whether he comes from the same father or from another.” And this is not surprising, since the religious rite of circumcision, so important for adherents of Orthodox Judaism, is associated with minor bleeding. Consequently, the Talmud recommended against exposing children who might have a hereditary bleeding disorder to this risk. Until the end of the 19th century, the reason for this strange illness remained unclear. Doctors tried to explain it either by the abnormal development of the walls of blood vessels, which allegedly became too thin, or by hypertension, or by defects in the structure of red blood cells, or by the influence of the pituitary gland.

Schmidt, a professor at the University of Dorpat, was the first to point out the true cause of the disease in 1861, creating the enzymatic theory of familial bleeding. Later, his assumptions were confirmed: it turned out that the blood plasma of patients lacks some proteins that healthy people have.

Why and how does blood clot?

It is known that blood clotting is a protective reaction of the body. Blood released from the vessels should normally clot within 3-4 minutes. In this case, the blood changes from a liquid state to a jelly-like state. A clot forms, clogging the damaged vessel and stopping the bleeding. In patients with hemophilia, this mechanism of thrombus formation is impaired. The main cells responsible for blood clotting are platelets. When a blood vessel ruptures, the cells that line it inside are damaged. Beneath the lining lie long fibers of the main connective tissue protein, collagen, to which platelets are able to adhere. Strong attachment of platelets to the surface of the wound leads to several important consequences. Firstly, a peculiar ring of microtubules is compressed inside the attached platelet, as a result of which the shape of the cell changes and numerous outgrowths appear on its surface, which helps to secure the platelet in the wound. Secondly, proteins appear on its surface, which are needed for the attachment of new platelets. Figuratively speaking, platelets that have penetrated the wound give a signal: “Here, to us! Needed here emergency help! From platelets rushing to help, they begin to be released biologically active substance- hormone serotonin. Under its influence, due to the contraction of smooth muscles, a vascular reaction begins - a local contraction of the lumens of blood vessels (spasm). Finally, platelets adhered to the wound release a substance that stimulates the division of smooth muscle cells. It’s also clear - the edges of the tear must be tightened with the help of muscles.

If a capillary turns out to be damaged, often a pile of platelets “piled” on the damaged site is quite enough to close the rupture site. If a larger vessel is damaged, the mechanism of fibrin plug formation is activated. It happens like this. Platelets attached to the wound release a special substance - a contact factor, which triggers a cascade of interactions between various proteins involved in the formation of a blood clot.

The main protein necessary for the formation of a blood clot is fibrinogen. Fibrin monomers resemble Lego blocks, from which you can easily build a long beam. Fibrinogen is a soluble blood plasma protein belonging to the group of globulins, one of the blood clotting factors. Under the action of the enzyme thrombin, it can be converted into fibrin.

The resulting polymer fibrin threads are stabilized by a special protein fibrinase. Thus, a real patch of densely intertwined fibrin threads appears in the wound, which neutralize thrombin. If this did not happen, thrombin could clot all the blood in the body.

It is clear that the fibrin plug cannot exist indefinitely. Quite soon, endothelial cells (a single layer of flat cells lining the inner surface of blood and lymphatic vessels) and smooth muscle cells close the resulting gap in the vessel wall, and then the clot begins to interfere with the restored blood flow. Therefore, it must be removed, and this is done by another participant in the process - the enzyme fibrinolysin. Under its influence, the fibrin thrombus begins to disintegrate and soon disappears completely.

Who has hemophilia?

Hemophilia is passed from parents to children. But she has one interesting feature: only men suffer from hemophilia, and only women pass it on by inheritance. For example, a sick father passes hemophilia to his daughter, who will not have it. external signs disease, but she will pass it on to her son, in whom hemophilia will manifest itself in full. However, those who think: this misfortune never happened in the family - and never will - are mistaken. Alas, this is not always the case. Trouble can come to any family. It has been proven that some patients received hemophilia not by inheritance, but as a result of the so-called sporadic gene mutation - for example, when foreign genetic information of a viral nature is introduced into the hereditary material of the body. Officially, 6.5 thousand patients with hemophilia are registered in Russia, but in fact, according to doctors, there may be 1.5-2 times more of them.

Severe hemophilia can usually manifest itself in the first year of life, with extensive bruising and unusually long bleeding. Mild and moderate forms often first appear during surgical operations, even such as tooth extraction, in the form of prolonged bleeding.

Even a bruise, which in a healthy person will manifest itself as a bruise at worst, can have a bruise in a hemophiliac patient. severe consequences. Entire “lakes” of blood can form under the skin, inside the skin, between the muscles. And if the knee is bruised, blood can flow into the joint cavity, which leads to limitation and even complete loss mobility, deformation, pain, so a person with hemophilia must be especially careful in everyday life.

Diagnostics

Early identification of a hemophilia carrier is based, first of all, on analysis of the family genealogical tree, measurement of the ratio of coagulant activity of blood factors VIII and IX, von Willebrand factor, as well as DNA analysis. DNA diagnosis is the most accurate, but not always informative. Prenatal diagnosis is possible by performing a chorionic villus biopsy at 9-11 weeks of pregnancy or puncture amniotic sac at the 12-15th week of fetal development, as well as DNA extraction from fetal cells for its appropriate analysis. Diagnosis of hemophilia A immediately after birth is based on the failure to detect normal factor VIII coagulant activity in the suspected newborn from whom blood is taken from a vein. Diagnosing hemophilia B, or factor IX deficiency, is more difficult because any newborn has low levels of factor IX activity. Low levels of factor IX can be detected in a newborn up to 6 months, even if the child does not have hemophilia. Puncture of the arteries, jugular, femoral and ulnar veins, as well as circumcision, are contraindicated until the patient has an appropriate factor level.

To clarify the diagnosis of hemophilia, laboratory diagnostics. During the examination, a series of blood tests are performed, the results of which determine the state of the coagulation system.

Manifestations of the disease

Most often, the first manifestations of bleeding in patients with hemophilia develop at the time when the child begins to walk and is exposed to household injuries. For some, the first signs of hemophilia appear already in the newborn period, for example in the form of bruises on the body (subcutaneous hematomas). During breastfeeding life-threatening There is usually no bleeding. This can be explained by the fact that in human milk contains substances that prevent the disease from manifesting for the time being. In general, children with hemophilia are characterized by fragility, pale skin and poorly developed subcutaneous fat layer.

In newborns with hemophilia, extensive cephalohematomas (hematomas of the head), subcutaneous and intradermal hemorrhages in the buttocks and perineum can also easily form. late bleeding from a tied umbilical cord in the first 24 hours after birth, and a little later (after 5-7 months) - bleeding during teething.

In sick children 1.5-2 years old, even minor injuries are accompanied by bruises on the forehead, limbs, buttocks, and teething, biting the tongue and mucous membrane of the cheeks, injections are accompanied by prolonged, sometimes multi-day (up to 2-3 weeks) bleeding. Hemorrhages in the joints are often observed. Subcutaneous, intermuscular hematomas are extensive, tend to spread, resemble tumors in appearance, and are accompanied by “blooming” (blue color - blue-violet - brown - golden). They also take a very long time to dissolve - within 2 months.

Treatment and prevention

Hemophilia cannot be completely eliminated, but the quality of life of a patient who is constantly receiving treatment does not suffer. Without treatment, hemophilia leads to permanent disability and quite often to premature death. Even at the beginning of the 20th century, the life expectancy of a hemophilia patient was short. Today, with special treatment, a patient with hemophilia can live as long as a healthy man. Patients with hemophilia are treated by a hematologist. Currently, a number of drugs are produced that can restore blood clotting in patients with hemophilia. Most of these drugs are dried blood concentrates from healthy people. Treatment with factor concentrates helps maintain the required level of blood clotting. The Russian drug industry uses domestic donor plasma and cryoprecipitate, which are semi-finished products for the production of blood clotting concentrates. They are administered intravenously. Currently, attempts are being made to launch the production of drugs against hemophilia using genetic engineering methods using stem cells.

Treatment for hemophilia also involves injecting the patient's deficient blood clotting factor directly into the patient's vein. Therapy can either prevent bleeding or reduce its consequences, and try to prevent the development of complications. Bleeding stops when enough clotting factor reaches the injured area. If treatment is carried out at an early stage, the likelihood of continued bleeding is sharply reduced. If treatment is delayed, bleeding continues and spreads, causing more severe tissue damage, which in turn increases the likelihood of subsequent bleeding. The frequency of use is individual and depends on the severity of the disease and the frequency of exacerbations.

Unfortunately, the disease has not yet been defeated. Treatment for hemophilia today is available mainly to patients living in developed countries, where highly effective and virus-safe concentrates of blood clotting factors are used. IN Russian Federation There is currently no technology to produce blood products that meet imported analogues. In Russia, the Hematological Department deals with hemophilia problems. science Center RAMS, which has created a special department for outpatient care for patients suffering from hemophilia, with round-the-clock mobile teams. If you require further information regarding available diagnostic options, please contact your nearest hemophilia treatment center or public organization patients with hemophilia, where there are appropriate specialists. The concept of comprehensive care in hemophilia treatment centers is an art approach to the treatment of this disease, where the patient's condition is assessed by a multidisciplinary team, which usually consists of a hematologist, orthopedist, nutritionist, infectious disease specialist, social worker, physiotherapist, dentist, rehabilitation specialist, psychologist and genetic consultant. This staff develops a coordinated plan of care for the patient and expects that the plan will be accepted by the patient's local pediatrician.

Hemophilia is considered one of the most expensive diseases in the world, since drugs made from human donor plasma are used for prevention, treatment, and surgical operations. It is important for patients with hemophilia to know and remember that drugs such as ACETYLSALICYLIC ACID (ASPIRIN), BRUFEN, INDOMETHACIN, butazolidines, ANALGIN are strictly contraindicated for them. Such drugs have the ability to thin the blood and further increase the likelihood of bleeding. For cuts and injuries, a patient with hemophilia immediately requires first aid; the wounds should be cleared of clots and washed with an antibiotic solution. Then apply gauze soaked in one of the hemostatic agents (adrenaline, hydrogen peroxide) and hemostatic sponges. It is also possible to use breast milk and human and animal blood serum. A bleeding wound must be well packed, that is, closed and clamped. And of course, in such cases you should immediately go to the hospital! The next stage of treatment is blood transfusion. Small doses are usually sufficient to stop bleeding. With significant blood loss, the doses of blood transfused increase. Since intramuscular and subcutaneous injections form hematomas; for patients with hemophilia, medications are administered intravenously.

If your child has hemophilia...

Hemophilia is a very dangerous diseases. It still leads to high mortality. Therefore, the most important preventive measure- medical and genetic counseling for those getting married. It is not recommended to have children when a hemophilia patient and a woman who is a carrier of hemophilia are married. In a healthy married woman

with a patient with hemophilia, at the 14-16th week of pregnancy using a special method of transabdominal amniocentesis (puncture of the fetal bladder through the anterior abdominal wall and the wall of the uterus in order to obtain amniotic fluid for research) the sex of the fetus is determined. If the disease is detected, in order to avoid the birth of a sick child, termination of pregnancy is recommended.

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

Quite often with hemophilia, bleeding occurs from the gums, nose, kidneys, and gastrointestinal tract. Bleeding can be initiated by any medical procedure ( intramuscular injection, tooth extraction, tonsillectomy, etc.). Bleeding from the pharynx and nasopharynx is extremely dangerous for a child with hemophilia, as it can lead to airway obstruction and require emergency tracheostomy. Hemorrhages in the meninges and brain lead to severe damage to the central nervous system or death.

Hematuria in hemophilia can occur spontaneously or due to injury lumbar region. In this case, dysuric phenomena are observed, with the formation of blood clots in urinary tract- attacks of renal colic. In patients with hemophilia, pyelectasia, hydronephrosis, and pyelonephritis are often found.

Gastrointestinal bleeding in patients with hemophilia may be associated with taking NSAIDs and other drugs, with exacerbation latent course peptic ulcer of the stomach and duodenum, erosive gastritis, hemorrhoids. With hemorrhages in the mesentery and omentum, the picture develops acute abdomen, 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 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 traumatologist-orthopedist, pediatric otolaryngologist, pediatric neurologist, etc.

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

After the baby is born, the diagnosis of hemophilia is confirmed using 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. Crucial importance in diagnosing a form of hemophilia belongs to the determination of a decrease in the procoagulant activity of one of the coagulation factors below 50%.

For hemarthrosis, a child with hemophilia undergoes radiography of the joints; at internal bleeding and retroperitoneal hematomas - ultrasound of the abdominal cavity and retroperitoneal space; for hematuria – general analysis urine and ultrasound of the kidneys, etc.

Treatment of hemophilia

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

In the treatment of hemophilia, there are two directions - preventive and “on demand”, during the period of manifestations of hemorrhagic syndrome. Prophylactic administration of coagulation 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, and hemostatic agents are used. All invasive interventions in patients with hemophilia (suturing, tooth extraction, any operations) are carried out under the guise of hemostatic therapy.

For minor external bleeding (cuts, bleeding from the nose and mouth), a hemostatic sponge, application of a pressure bandage, and treatment of the wound with thrombin can be used. In case of uncomplicated hemorrhage, the child needs complete rest, cold, immobilization of the diseased joint with a plaster splint, subsequently UHF, electrophoresis, exercise therapy, and light massage. Patients with hemophilia are recommended to eat a diet enriched with vitamins A, B, C, D, calcium and phosphorus salts.

Prevention involves medical and genetic counseling of married couples with a 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 prescribed a protective regime and injury prevention; dispensary observation pediatrician, hematologist, pediatric dentist, pediatric orthopedist and other specialists; observation in a specialized hemophilia center.