Hemophilia disease - etiology, signs, prevention. Romanov and hemophilia. Father with hemophilia, healthy mother

– hereditary pathology hemostasis 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, coagulogram analysis. 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 obstruction. respiratory tract and require emergency tracheostomy. Hemorrhages in meninges and brain lead to severe damage to the central nervous system or death.

Hematuria in hemophilia can occur spontaneously or as a result of injuries to the lumbar region. In this case, dysuric phenomena are noted, with the formation blood clots in the 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 of the latent course of gastric and duodenal ulcers, 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; for 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.

Hemophilia is a blood disease that belongs to the group of hereditary coagulopathies or diathesis. The prevalence of the recorded pathology in the world is 1 case per 10 thousand male population. There are 7.5 thousand patients with hemophilia in Russia, but, according to statements public organizations, involved in providing care to patients, mild forms are simply not registered, there should be about 12 thousand people sick.

The popular belief is that a patient with hemophilia can suddenly die from heavy bleeding which cannot be stopped. This is not true and is based on rumors. However, the risk of death from hemorrhagic stroke is indeed higher than average, since the vulnerability of brain vessels is great.

Disability of patients with hemophilia occurs at a young age from extensive hemorrhages in the joints and muscles with the subsequent development of contractures.

Causes

The causes of hemophilia have been sufficiently studied. Discovered characteristic changes one gene on the X chromosome. It has been established that this particular area is responsible for the production of the necessary coagulation factors and specific protein compounds.

Each region of the chromosome is responsible for specific function, mutations cause hereditary diseases

The hemophilia gene does not originate on the Y chromosome. This means that the fetus gets it from the mother’s body. Important feature is the possibility of clinical manifestations only in males.

The hereditary mechanism of transmission of the disease is called “sex-linked” in the family. Colorblindness (loss of the function of distinguishing colors), lack of sweat glands. Scientists tried to answer the question of in which generation the gene mutation occurred by examining the mothers of boys with hemophilia.

It turned out that from 15 to 25% of mothers did not have the necessary damage to the X chromosome. This indicates the occurrence of a primary mutation (sporadic cases) during the formation of the embryo and means the possibility of hemophilia without complicated heredity. In subsequent generations, the disease will be passed on as a family trait.

No specific reason for the change in the child’s genotype has been identified.

Probability of inheriting a modified gene

70% of hemophilia cases are considered hereditary. Genetic changes are inherited in a recessive manner (the dominant type indicates illness in both parents and mandatory transmission to children). The role of a woman as a mutation carrier is reduced to transmitting the disease to her sons. A born girl can be a carrier, but she herself will not get sick.

The probability of having a sick boy in a couple consisting of a healthy man and a carrier mother is 50:50. Cases of the disease are rare in girls born to a hemophiliac father and a healthy mother. Typically, from such a marriage one can expect healthy sons or daughters who are carriers of the altered gene.

Hemophilia in women (girls) is a very rare phenomenon. To do this, the child must be born from a hemophiliac father and a carrier mother. Only 60 similar diseases have been described in world practice. Success modern medicine to prolong the life of patients, an increase in the identification of sick girls is expected in the coming years.

Why is hemophilia called the “royal disease”?

The pathology owes the appearance of the name “royal disease” to the British Queen Victoria. It was she who served as the ancestor of the altered gene in her children and grandchildren. At the same time, historical evidence about the possibility of Victoria’s paternity and mother’s connections was verified.

One of Britain's favorite queens had a large and friendly family

Clinical manifestations of hemophilia were found in Victoria's son Leopold, Duke of Albany. Further inheritance followed a recessive pattern through daughters and granddaughters. One of the factors that increases the likelihood of the disease is considered to be consanguineous marriages between cousins ​​in the royal families of Europe.

Thus, the mutating gene was passed through Empress Alexander to Tsarevich Alexei Nikolaevich, the son of the last Russian monarch.

Types of hemophilia

Blood clotting is one of the body's defense reactions against wounds and possible blood loss. In addition to platelets and fibrinogen, which are actively involved in the formation of blood clots in blood vessels, plasma factors are also important. They are endowed with the ability to balance, if necessary, the processes of coagulation and anti-clotting.

A deficiency of one of the necessary factors leads to disruption of the entire system. Hemophilia is directly related to a deficiency of factors VIII, IX, which are responsible for the formation of thromboplastin in the first phase of coagulation.

Depending on the type of disturbances in the coagulation system caused by mutating regions (loci) of the X chromosome, there are 3 variants of the disease:

• Type A - caused by a lack of antihemophilic globulin (factor VIII), which impairs the synthesis of thrombokinase. The most typical form. Up to 85% of patients suffer from it. The severity is due to bleeding due to injuries, operations, which occur against the background of a decrease in the concentration of the factor to 5–20% of the normal level.
• Type B (Christmas disease) - associated with a lack of synthesis of factor IX, which is responsible for the creation of a secondary coagulating plug in the vessel and the synthesis of thrombokinase, affects up to 13% of patients.
• Type C - occurs in 2% of patients, unlike the previous ones, transmission by a dominant type is possible, both men and women are affected. Factor XI deficiency, responsible for thromboplastin, was detected. There is a national sensitivity: more typical for Ashkenazi Jews. Because the clinical manifestations differ significantly from the classic ones, it was decided to exclude this subspecies from the modern classification.

Up to 0.5% of cases are other types of hemostasis disorders.

Classification by severity

The severity of the disease is influenced by the degree of deficiency of the listed factors, causing loss blood clotting ability. There are different degrees:

• mild - the concentration of the factor is 6% or higher, usually detected at school age, bleeding is rare, low-intensity, occurs during injuries, during surgery, during tooth extraction;
• moderate - the level of factors ranges from 1 to 5% of the norm, usually the symptoms of hemophilia are identified in the preschool years, moderately severe hemorrhagic manifestations(hemorrhages in joint capsules, muscles), red blood cells are detected in urine analysis;
• severe - the level of deficiency is below 1%, pronounced hemorrhagic manifestations develop already in early childhood, widespread hematomas on the head are detected in a newborn, increased bleeding from the umbilical cord, black stool (melena), hematomas occur without connection with injury, bleeding gums are characteristic when teething, changing milk teeth to molars, hemorrhages in internal organs are possible.

Some hematologists identify a latent (hidden) form with a deficiency of the main factor of up to 15%.

Clinical signs

Typical symptoms of hemophilia types A and B are:

• various hematomas (in the muscles, under the skin, under the muscular fascia, in the retroperitoneal space) are more often associated with a small bruise, are present in every fifth patient, have a wide area of ​​distribution, if the internal nerve trunk or artery is compressed, then they appear severe pain;
• bleeding - from cuts, holes extracted tooth, gums, after surgical interventions, injuries, it is characterized by a delayed nature (bleeding does not occur immediately after the injury, but 6–8 hours later);
• the occurrence of hemarthrosis (70–80% of cases);
• hematuria - renal bleeding, detected by the presence of blood in the urine (from 14 to 20% of cases), occurs spontaneously or after a lumbar injury, can be accompanied by attacks of renal colic, leads to hydronephrosis, chronic pyelonephritis;
• intestinal bleeding - manifests itself in 8% of patients with severe hemophilia in the form of “black” loose stool, severe dizziness, weakness, may be provoked by taking medicines(steroids, analgesics);
• hemorrhage into the mesentery - causes an attack of acute abdominal pain, cannot be distinguished from appendicitis and peritonitis, sometimes similar to the clinical picture of acute intestinal obstruction;
• hemorrhagic strokes - accompany up to 5% of patients, most often occur at a young age, the clinic depends on the location of the lesion.

After hemorrhage, inflammation and stiffness develop in the joint with the formation of contractures and ankylosis (complete immobility)

With hemarthrosis in a child, after a bruise, the joint swells, sharp pain appears, redness of the skin over the affected area, and the joint is hot to the touch. In case of repeated hemorrhages (relapses), chronic inflammation of the joint capsule (synovitis) occurs, which becomes the cause of osteoarthritis (fusion of articular surfaces) and changes in the shape of the limb and its length. In the future, the patient may have a curvature of the spinal column, pelvic bones, deformation of the feet and hands, muscle atrophy. It's becoming main reason disability in childhood.

Diagnostic signs

Specialists from various fields should take part in the diagnosis of the disease: neonatologists in the maternity ward, pediatricians, therapists, hematologists, and geneticists. If unclear symptoms or complications appear, consultations with a gastroenterologist, neurologist, orthopedist, surgeon, ENT doctor and other specialists are sought.

Signs identified in a newborn must be confirmed laboratory methods clotting studies.

Changed coagulogram parameters are determined:

• coagulation and recalcification time;
• thrombin time;
• activated partial thromboplastin time (aPTT);
• Specific tests are performed for thrombin potential and prothrombin time.

Diagnostics includes studying:

• thromboelastograms;
• carrying out genetic analysis for the level of D-dimer.

A decrease in the level of indicators to half the norm or more has diagnostic significance.

Hemarthrosis must be examined using radiography. Hematomas with suspected retroperitoneal localization or inside require ultrasound examination. To identify kidney diseases and damage, a urine test and ultrasound are performed.

Treatment

Treatment for hemophilia consists of replacement therapy. It is impossible to rid the patient of pathology; it is necessary with the help medicines add or introduce deficient clotting factors into the patient's body.

The required dosage depends on the degree of deficiency, type and severity of the disease. The need to increase the dose arises when antibodies are produced to replacement protein complexes.

1. prevention during periods without symptoms;
2. treatment during the period of hemorrhagic manifestations.

Preventive treatment of hemophilia is reduced to the administration of coagulation factors in a maintenance dosage 2-3 times a week. All surgical interventions, including tooth extraction, are carried out “under the guise” of an additional dosage of factors. This helps prevent the development of joint damage and other hemorrhages.

Mild hemophilia can be seen with small puncture wounds

If hemorrhages are manifested by minor external bleeding (cuts, nosebleeds), the following is indicated:

• use of a hemostatic sponge;
• treatment of the wound surface with thrombin;
• pressure bandage;
• local cold;
• if a limb is wounded, provide rest with an auxiliary splint.

In the future, UHF appointment is required, light massage, electrophoresis, physical therapy to maintain joint mobility.

You should follow a diet enriched with vitamins C, A, B, D, phosphorus and calcium salts.

In case of severe bleeding, repeated administration of clotting factor replacement drugs is required.

And. They are obtained from human donor blood or artificially from animal material. Fresh frozen plasma, hemostatic agents, and erythromass are used.

Standard scheme for different types hemophilia:

• A - fresh plasma, a special antihemophilia type of plasma, cryoprecipitate is required;
• B - fresh frozen donor plasma, concentrated factor IX is sufficient;
• C - you can limit yourself to only fresh frozen dry plasma.

When antibodies form, plasmapheresis and immunosuppressants are indicated.

All patients are given symptomatic treatment depending on the clinic (for example, anti-inflammatory drugs).

Genetic scientists are developing measures to influence the altered genome of a sick person. So far, only animal experiments are being carried out. The effectiveness was obtained using the enzymatic base of adeno-associated viruses. As it turned out, they are able to remove the mutating part of the hemophilia gene and replace it with a healthy one.

Forecast

The life prognosis for current hemophiliacs is favorable with constant compliance with treatment conditions. Average duration Their lives are the same as those of healthy people.

Frequent transfusions of blood components increase the risk of infection with hepatitis, HIV, herpes, and cytomegalovirus infection. The prognosis worsens with severe repeated bleeding and lack of treatment.

A healthy woman married to a hemophilic man may give birth to a carrier daughter and transmit the disease to her grandson

How to find out about the possibility of transmitting pathology to children?

Genetic consultations work with spouses who want to have a child. You can undergo an interview and examination at the stage of pregnancy planning. Experts analyze known genealogical data. It is impossible to plan in advance for the birth of a healthy baby.

During pregnancy, carriage is detected by chorionic villus biopsy using amniocentesis (tissue sampling). A fetus can be diagnosed with hemophilia from the eighth week of pregnancy.

Large perinatal centers are gaining experience in vitro fertilization after special processing of the material.

Many public organizations have been created around the world to protect patients and explain their problems to the public. Hemophilia Day is celebrated annually on April 17th. Its task is to involve officials from the medical field in the daily difficulties of patients.

For most ignorant people, hemophilia is a so-called royal disease; they know about it only from history: they say, Tsarevich Alexei suffered from it. Due to lack of knowledge, people often believe that ordinary people cannot have hemophilia. There is an opinion that it affects only ancient births. For a long time the same attitude was towards “aristocratic” gout. However, if gout is a nutritional disease, and any person can now be susceptible to it, then hemophilia is a hereditary disease, and any child whose ancestors had such a disease can get it.

What is hemophilia?

The disease is popularly called “liquid blood.” Indeed, its composition is pathological, and therefore its ability to coagulate is impaired. The slightest scratch and the bleeding is difficult to stop. However, the internal ones, occurring in the joints, stomach, and kidneys, are much more severe. Hemorrhages in them can be caused even without outside influence and carry dangerous consequences.

Twelve special proteins are responsible for this and must be present in the blood in a certain concentration. The disease hemophilia is diagnosed if one of these proteins is completely absent or present in insufficient concentration.

Types of hemophilia

In medicine, there are three types of this disease.

1. Hemophilia A. Caused by the absence or deficiency of VIII. The most common type of disease accounts for, according to statistics, 85 percent of all cases of the disease. On average, one baby out of 10 thousand turns out to be sick with just such hemophilia.
2. Hemophilia B. With it, there are problems with factor number IX. It is noted as much rarer: the risk of getting it is six times lower than in the case of option A.
3. Hemophilia C. Factor number XI is missing. This variety is unique: it is characteristic of both men and women. Moreover, most often Ashkenazi Jews get sick (which is generally uncharacteristic of any illness: they are usually international and are equally “attentive” to all races, nationalities and nationalities). Manifestations of hemophilia C also stand out from the general clinical picture, therefore in last years it has been removed from the list of hemophilias.

It is worth noting that in a third of families this disease occurs (or is diagnosed) for the first time, which becomes a blow for unprepared parents.

Why does the disease occur?

Its culprit is the congenital hemophilia gene, which is located on the X chromosome. Its carrier is a woman, and she herself is not sick, except that there may be frequent nosebleeds, too much menstruation or slower healing of small wounds (for example, after the gene is recessive, so not everyone whose mother is a carrier of the disease gets sick. Usually the probability is distributed 50:50. It increases if the father in the family is also sick. Girls become carriers of the gene without fail.

Why hemophilia is a male disease

As already mentioned, the hemophilia gene is recessive and is attached to a chromosome designated X. Women have two such chromosomes. If one is affected by such a gene, it turns out to be weaker and is suppressed by the second, dominant one, as a result of which the girl remains only a carrier through which hemophilia is transmitted, but she herself remains healthy. It is likely that at conception both X chromosomes may contain the corresponding gene. However, when the fetus forms its own circulatory system (and this happens in the fourth week of pregnancy), it becomes unviable, and spontaneous abortion(miscarriage). Since this phenomenon may be caused for various reasons, usually no studies are carried out on self-abortion material, so there are no statistics on this issue.

Another thing is men. They do not have a second X chromosome, it is replaced by a Y. There is no dominant “X”, so if the recessive one manifests itself, then it is the course of the disease that begins, and not its latent state. However, since there are still two chromosomes, the probability of such a plot development is exactly half the chance.

Symptoms of hemophilia

They can appear already at the birth of a child, if the corresponding factor is practically absent in the child’s body, or they can make themselves felt only over time, if there is a deficiency of it.

1. Bleeding in the absence of obvious reasons. Often a child is born with bleeding from the nose, eyes, or navel, and it is difficult to stop the bleeding.
2. Hemophilia (photos demonstrate this) manifests itself by the formation of large, edematous hematomas from an absolutely insignificant impact (for example, pressing with a finger).
3. Repeated bleeding from a seemingly healed wound.
4. Increased everyday bleeding: nasal, from the gums, even when brushing your teeth.
5. Hemorrhages in the joints.
6. Traces of blood in urine and feces.

However, such “signs” do not necessarily indicate hemophilia. For example, nosebleeds may indicate weakness in the walls of blood vessels, blood in the urine may indicate kidney disease, and blood in the feces may indicate an ulcer. Therefore, additional research is required.

Detection of hemophilia

In addition to studying the patient's medical history and examining him with the most by different specialists laboratory tests are carried out. First of all, the presence of all coagulation factors in the blood and their concentration are determined. The time it took for the blood sample to clot is determined. Often these analyzes are accompanied by DNA testing. For a more accurate diagnosis, it may be necessary to determine:

• thrombin time;
• mixed;
• prothrombin index;
• amount of fibrinogen.

Sometimes more highly specialized data is also requested. It is clear that not every hospital is equipped with the appropriate equipment, so with suspicion of hemophilia they are sent to a blood laboratory.

The disease that accompanies hemophilia (photo)

What is most characteristic of hemophilia is joint bleeding. Medical name- hemoarthrosis. It develops quite quickly, although it is most common in patients with severe forms of hemophilia. They have hemorrhages in the joints without any external influence, spontaneously. In mild forms, trauma is required to provoke hemoarthrosis. The joints affected primarily are those that experience stress, that is, the knee, hip and foot joints. The second in line are the shoulder ones, followed by the elbows. The first symptoms of hemoarthrosis appear in eight-year-old children. Due to joint lesions, most patients become disabled.

Vulnerable organ: kidneys

Hemophilia often causes blood to appear in the urine. This is called hematuria; may be painless, although the symptom still remains alarming. In approximately half of the cases, hematuria is accompanied by acute, prolonged pain. Not uncommon renal colic caused by blood clots pushing through the ureters. The most common disease in patients with hemophilia is pyelonephritis, followed by hydronephrosis in frequency of occurrence, and the last place is occupied by capillary sclerosis. Treatment for everyone kidney diseases complicated by certain restrictions on medications: they cannot use anything that thins the blood.

Treatment of hemophilia

Unfortunately, hemophilia is incurable disease, which accompanies a person throughout his life. No way has yet been invented to force the body to produce necessary proteins, if he does not know how to do this from birth. However, the achievements of modern medicine make it possible to maintain the body at a level at which patients with hemophilia, especially in a less severe form, can lead an almost normal existence. To prevent hematomas and bleeding, regular infusions of solutions of missing coagulation factors are required. They are isolated from the blood of human donors and animals raised for donation. The administration of drugs has a permanent basis as a preventive measure and a therapeutic one in the event of an upcoming operation or injury.

In parallel, patients with hemophilia must constantly undergo physical therapy to maintain joint function. In case of hematomas that are too extensive and become dangerous, surgeons perform operations to remove them.

Because transfusions of drugs made from donor blood are required, hemophilia increases the risk of contracting viral hepatitis, herpes and - worst of all - HIV. Without a doubt, all donors are checked for the safety of using their blood, but no one can give guarantees.

Acquired hemophilia

In most cases, hemophilia is inherited. However, there are certain statistics of cases when it manifested itself in adults who had not previously suffered from it. Fortunately, such cases are extremely rare - one or two people in a million. Most get the disease when they are over 60 years of age. In all cases, acquired hemophilia is type A. It is noteworthy that the reasons why it appeared were identified in less than half of the patients. Among them are cancerous tumors, taking certain medications, autoimmune diseases, very rarely - pathological, with a severe course. Doctors were unable to determine why the rest fell ill.

Victorian disease

The first case of an acquired disease is described using the example of Queen Victoria. For a long time it was considered the only one of its kind, since neither before it, nor for almost half a century after it, hemophilia was not observed in women. However, in the twentieth century, with the advent of statistics on the acquisition of the royal disease, the queen cannot be considered unique: hemophilia that appeared after birth is non-hereditary and does not depend on the gender of the patient.

Hemophilia or hemophilia (the so-called disease blue bloods) is a pathological process of a hereditary nature, which is based on a violation or sharp decrease in the synthesis of factors VIII, XI, or IX, which are responsible for the ability of blood to clot.

In other words, this is the incoagulability of blood, which manifests itself in the form of a person’s tendency to various types of bleeding: gastrointestinal, hemarthrosis, retroperitoneal and intramuscular hemorrhages in the tissue.

Blood incoagulability is extremely dangerous for the life of a person who is undergoing surgery. A mutation in just one gene dooms a child born into the world to a lifelong dependence on drugs that regulate blood clotting.

Hemophilia is a hereditary disorder. In history it is also known as the royal disease.

The disease is characterized by the fact that the carriers of the pathology are exclusively women, and the sufferers are men.

The thing is that the disease gene is recessive and is located on the X chromosome. If a woman is carrying a boy, then his X chromosome contains the hemophilia gene, and the Y chromosome does not have a dominant gene that can suppress the recessive one. A boy is born with hemophilia.

Medical statistics have proven that if a father has hemophilia, his son may be born with a positive or negative diagnosis.

The only factor that causes hemophilia is heredity. That is, hemophilia is transmitted from a mother to her sons. This situation happens in 80% of cases. But there is a small probability that the disease will manifest itself during the process. life cycle person.

Symptoms

Hereditary hemophilia manifests itself in the form of the following symptoms:

• regularly occurring bleeding from the sinuses;
• the presence of blood elements in and;
• the formation of extensive hematomas due to bruises and even the most minor injuries;
• bleeding during tooth extraction that cannot be stopped for a long time;
• bleeding in the joints (or hemarthrosis), which occurs due to the release of a portion of blood into them, causing swelling and physical discomfort.

Symptoms in children

The disease is characterized by severe severity if it develops within first 6-12 months child's life. Its main symptoms:

1. from umbilical wound The child has been bleeding for a long time.
2. small hematomas that are localized in different parts of the body or on mucous membranes.
3. bleeding at puncture sites for vaccines and other necessary injections.

As soon as the child reaches two years of age, capillary (petechiae) and joint hemorrhages are added to the above symptoms. They can be formed without visible reasons or as a result of minor physical exertion.

Genetic hemophilia in children preschool age characterized by symptoms:

• heavy bleeding from the nose;
• bleeding from the gums, especially during daily hygiene teeth;
• periodic appearance of blood in the urine, the level of which is outside the normal range;
• hemarthrosis, the prolonged presence of which leads to chronic contractures and synovitis;
• detection of blood elements in the child’s stool, which indicates an early stage of progressive anemia;
• hemorrhages in some internal organs;
• a tendency to cerebral hemorrhages, which pose a real threat of damage to the central nervous system.

A hemophiliac child usually stands out from other children because of his thin build and poor appetite. The disease is dangerous because it can cause severe complications: thrombocytopenia, leukopenia, renal failure leading to disability at an early age.

Symptoms in women

Hemophilia in women is extremely rare. If this diagnosis confirmed, the course of the disease most often has a mild form. Symptoms include nosebleeds or heavy menstruation. Problems with blood clotting can also occur during dental treatment or tonsil removal.

Symptoms in men

With age, the disease in men becomes progressive. Symptoms become pronounced and can cause serious harm to the body:

1. Bleeding in the retroperitoneal region. Over time they lead to acute diseases internal organs that can only be cured surgically.
2. Subcutaneous and intramuscular bruises. Their danger lies in the high probability of tissue necrosis and infection in the blood.
3. Anemia of posthemorrhagic type.
4. Hemorrhages in bone tissue. Without proper treatment, this will soon lead to its death.
5. Large area hematomas causing paralysis and gangrene.
6. Hemorrhages in the joint area, osteoarthritis. Limitation of their mobility and partial atrophy of the muscle fibers of the limbs will subsequently lead the patient to disability.

Classification

The disease is divided into several types, each of which is characterized by the absence of a specific clotting factor in the blood.

• Hemophilia type A. Appears in patients in the absence of a specific blood protein - antihemophilic globulin or clotting factor VIII. This type is the most common: for every 5 thousand healthy males there is one hemophiliac of type A.
• Hemophilia type B. The development of such hemophilia is caused by a lack or complete absence the so-called Christmas factor (IX factor). The type described above is less common. Type B is fixed in newborn boys in 1 out of 30 thousand cases.
• C-hemophilia. A very rare form that affects patients diagnosed with lack of blood clotting factor XI. This hemophilia affects girls whose father is a hemophiliac and whose mother is a carrier of a gene mutation. The incidence rate is 5%.

Diagnostics

Diagnosis of hemophilia in children from birth is carried out by several specialists: hematologist, neonatologist, geneticist, pediatrician. If the disease has already caused complications or occurs in conjunction with other pathologies, then additional consultations with pediatricians such as an orthopedist, traumatologist, gastroenterologist, neurologist, or otolaryngologist will be needed.

Married couples who are at risk of having a child with a similar disease should definitely obtain a medical consultation genetic nature. This should be done during pregnancy planning. DNA testing of women and men, as well as prenatal diagnosis of hemophilia, will reveal the possibility of transmitting the gene mutation.

Confirmation of the diagnosis in a newborn is carried out through laboratory analysis of homeostasis. In hemophilia, a coagulogram will show an increased clotting time of blood biomaterial, an increase in thrombin time and recalcification time. The most reliable indicator of the presence of the disease is a decrease in procoagulant activity below 50% one of the characteristic clotting factors.

A child suffering from hemophilia must constantly undergo diagnostic testing of the body.

If there are hematomas behind the peritoneum and internal bleeding of different locations, an ultrasound of the abdominal organs is indicated; in the case of hemarthrosis, an x-ray examination of the joints is indicated. If blood elements are detected after urination, it is recommended to donate (general) and regularly perform ultrasound of the kidneys.

Treatment

Today, hemophilia is considered an incurable disease. Therefore, the patient only needs to monitor the appearance of new symptoms and follow the instructions of the therapy chosen by the doctor. It is advisable to carry out treatment in medical clinics that research hemophilia and specialize in this disease.

Treatment of each patient is individual and begins with determining the type of hemophilia. Further actions doctors will be directed to supply the patient’s blood with the missing clotting factor. For this purpose it is used donor blood. The exact dosage of the factor introduced into the body is very important, otherwise the development of anaphylactic shock. After the next procedure, the patient’s blood counts and condition return to normal. This is the so-called prevention acute blood loss and minimizing their negative consequences.

1. If a joint hemorrhage occurs, a cold compress should be applied to the affected area. The joint is immobilized for 3-4 days, and then resort to the UHF procedure.
2. Violations in musculoskeletal system restore various methods physiotherapy. They are usually prescribed by your doctor. The method of synovectomy and achilloplasty shows excellent results.
3. Capsular-type hematomas are removed surgically. In parallel with the operation, therapy with antihemophilic concentrates is carried out.
4. External bleeding is treated in the clinic under anesthesia. First, the surface of the wound is thoroughly cleaned of clots and disinfected. by special means, and then apply a bandage with drugs that stop the flow of blood.
5. Diet plays an important role in the treatment of hemophilia. The products that the patient consumes must be saturated with vitamins of all groups and microelements.

Prevention

Most important role Early diagnosis of the child’s gender and its possible pathology during pregnancy plays a role in the prevention of hemophilia (if the mother is a carrier of the mutation gene and the father has one of the types of hemophilia).

People with this diagnosis should avoid injuries and bruises from childhood. Heavy physical labor and sports activities which are associated with the risk of various types of injuries.

It is necessary to exclude drugs that cause blood thinning. These include antipyretic tablets and anti-inflammatory drugs.

Surgical interventions, wounds), spontaneous hemorrhages in various organs and hematomas.

The peculiarity of hemophilia is that only boys suffer from the disease, while girls do not get sick, but are only carriers of the mutant gene. Currently, with proper therapy, hemophilia patients can live to a ripe old age, whereas without treatment, such people usually die within 10 to 15 years.

Essence and brief characteristics of the disease

Hemophilia is caused by a lack of special proteins in the blood called clotting factors. These proteins participate in a cascade of biochemical reactions that carry out blood clotting, the formation of a blood clot and, accordingly, stopping bleeding from a damaged area of ​​​​tissue. Naturally, a deficiency of coagulation factors leads to the fact that such a cascade of biochemical reactions proceeds slowly and incompletely, as a result of which the blood clots slowly, and any bleeding is quite prolonged.

Depending on which coagulation factor is insufficient in the blood, hemophilia is divided into two types - hemophilia A and hemophilia B. With hemophilia type A, a person’s blood has a deficiency of coagulation factor VIII, which is also called antihemophilic globulin (AGG). In hemophilia type B, there is a deficiency of clotting factor IX, also called Christmas factor.

Previously, hemophilia type C (Rosenthal disease) was also identified, which is caused by a deficiency of coagulation factor XI, however, due to the fact that it differs significantly from A and B in clinical manifestations and causes, this disease is classified as a separate nosology and is currently not considered a variant hemophilia.

Currently, up to 85% of all cases of hemophilia are type A, also called “classical hemophilia.” And hemophilia type B accounts for no more than 15% of all cases of the disease. The overall incidence of hemophilia A ranges from 5 to 10 cases per 100,000 births, and hemophilia B is 0.5 to 1 case per 100,000 births.

In children older than six months and adults, hemophilia is manifested by bruising that appears even with minor injuries (bruises), as well as bleeding from the gums and nose or when teething, biting the tongue and cheeks. Bleeding usually lasts for at least 15 to 20 minutes, even with light biting of the tongue, after which it stops. However, a few days after the injury, bleeding resumes. It is the resumption of bleeding some time after the injury and, it would seem, the bleeding has already stopped that is characteristic feature hemophilia.

The bruises and bruises that form in patients with hemophilia are extensive, do not resolve for a long time and constantly reappear. The bruise may take up to 2 months to resolve. Moreover, bruises in patients with hemophilia bloom, that is, their color changes sequentially - first they are blue, then purple, then brown and at the last stage of resorption - golden.

For patients with hemophilia, hemorrhages in the eye or internal organs are very dangerous, since they can lead to blindness in the first case, and to death in the second.

The most typical hemorrhages in hemophilia are articular. That is, blood flows into the joint cavity, as a result of which hemarthrosis develops. The large joints most commonly affected are the knees, elbows, shoulders, hips, ankles and wrists. When hemorrhaging into a joint, swelling and pain appear in the affected organ, body temperature rises and protective muscle contraction occurs. With primary hemorrhages, the blood gradually resolves, but with repeated hemorrhages, clots remain in the joint cavity, which contribute to the maintenance of chronic inflammation and the formation of ankylosis (immobility of the joint).

For patients with hemophilia, the use of drugs that impair blood clotting, such as Aspirin, Indomethacin, Analgin, Sinkumar, Warfarin, etc., is strictly contraindicated.

Hemophilia is a hereditary disease, meaning it is passed on from parents to children. The fact is that a deficiency of blood coagulation factors, which is the basis for the development of the disease, occurs in a person not under the influence of factors environment, but due to mutations in genes. This mutation leads to the fact that clotting factors are not produced in the required quantities, and the person develops hemophilia. A special feature of hemophilia is the fact that women are only carriers of the defective gene, but do not suffer from bleeding themselves, while boys, on the contrary, do get sick. This feature is due to the sex-linked inheritance of a defective gene that causes hemophilia.

Causes of hemophilia

Thus, the primary, true cause of hemophilia is a mutation in the genes of clotting factors. And the direct factor causing the tendency to bleeding is a deficiency of coagulation factors in the blood, which occurs due to mutations in genes.

Hemophilia gene (recessive, sex-linked)

The location of the hemophilia gene on the sex X chromosome means that its inheritance is sex-linked. That is, the gene is transmitted according to certain patterns that differ from the inheritance of other genetic material not located in the sex chromosomes. Let's take a closer look at the inheritance of the hemophilia gene.

Any normal person necessarily has two sex chromosomes, one of which he gets from his father, and the other from his mother. The fact is that the egg and sperm each have only one sex chromosome, but when fertilization occurs and their genetic material is combined, a fertilized egg is formed, already equipped with two sex chromosomes. From this fertilized egg the child develops.

The combination of sex chromosomes, formed as a result of the fusion of the genetic sets of the father and mother, determines the sex of the unborn child already at the stage of fertilization of the egg by the sperm. It goes like this.

As is known, humans have only two types of sex chromosomes – X and Y. Any man carries a set of X + Y, and a woman – X + X. Accordingly, in female body One X chromosome always enters the egg. And in male body either the X chromosome or the Y chromosome enters the genetic set of the sperm with the same frequency. Further, if the egg is fertilized by a sperm with the X chromosome, then the fertilized egg will carry a set of X + X (one X from the father, and the second from the mother) and, therefore, a girl will be born. If the egg is fertilized by a sperm with a Y chromosome, then the fertilized egg will carry the set X + Y (X from the mother, and Y from the father) and, therefore, a boy will be born.

The hemophilia gene is linked to the X chromosome, therefore, its inheritance can only occur if it is on the chromosome that ends up in the egg or sperm.

In addition, the hemophilia gene is recessive, meaning that it can only work if there is a second identical recessive allele of the gene on the paired chromosome. To clearly understand the meaning of recessiveness, you need to know the concept of dominant and recessive genes.

So, all genes are divided into dominant and recessive. Moreover, each gene responsible for a particular feature (for example, eye color, hair thickness, skin structure, etc.) can be either dominant or recessive. The dominant gene always suppresses the recessive one and manifests itself externally. But recessive genes appear externally only if they are present on both chromosomes - those received from the father and from the mother. And since a person has two variants of each gene, one part of which is received from the father, and the second from the mother, the final manifestation of the external characteristic depends on whether each half is dominant or recessive.

For example, the gene for brown eyes is dominant, and the gene for blue eyes is recessive. This means that if a child receives a gene for brown eyes from one parent, and blue eyes from the second, then he will have Brown eyes. This will happen because the dominant brown-eyed gene will suppress the recessive blue-eyed gene. So that the child has Blue eyes, he must receive two recessive blue-eyed genes from both parents. That is, if there is a combination of a recessive + dominant gene, then the dominant one always appears outwardly, and the recessive one is suppressed. For a recessive to appear, it must be in “two copies” - both from the father and from the mother.

Returning to hemophilia, it is necessary to remember that its gene is recessive and linked to the X chromosome. This means that for hemophilia to manifest, it is necessary to have two X chromosomes with recessive genes hemophilia. However, only women have two X chromosomes, and only men who carry the X + Y set suffer from hemophilia. This paradox is easily explained. The fact is that a man has only one X chromosome, on which there may be a recessive hemophilia gene, and on the second Y chromosome there is none at all. Therefore, a situation arises when one recessive gene outwardly manifests itself as hemophilia, since there is no one to suppress it due to the absence of a second dominant paired gene.

A woman can develop hemophilia only if she receives two X chromosomes with recessive genes for the disease. However, in reality this is impossible, since if a female fetus carries two X chromosomes with hemophilia genes, then at the 4th week of pregnancy, when it begins to produce blood, a miscarriage occurs due to its non-viability. That is, only a female fetus in which only one X chromosome carries the hemophilia gene can develop normally and survive. And in this case, if there is only one X chromosome with the hemophilia gene, the woman will not get sick, since the second, paired dominant gene of the other X chromosome will suppress the recessive one.

Thus, it is obvious that women are carriers of the hemophilia gene and can pass it on to their offspring. If the offspring of a woman is male, then it will be high probability will suffer from hemophilia.

Probability of hemophilia

If a man with hemophilia marries and healthy woman , then the boys born to them will be healthy, and girls with a 50/50 probability will become carriers of the hemophilia gene, which they can subsequently pass on to their children (Figure 1).

Marriage of a man with hemophilia and a woman who carries the hemophilia gene unfavorable from the point of view of the birth of healthy offspring. The fact is that in this couple there are the following probabilities of having children with gene carriage or hemophilia:

• Birth of a healthy boy – 25%;
• Birth of a healthy girl who is not a carrier of the hemophilia gene – 0%;
• Birth of a healthy girl carrier of the hemophilia gene – 25%;
• Birth of a boy with hemophilia – 25%;
• Miscarriages (girls with two hemophilia genes) – 25%.

Marriage of a woman who carries the hemophilia gene and a healthy man will lead to the birth of sick boys with a 50% probability. Girls born from this union can also be carriers of the hemophilia gene with a 50% probability.

Picture 1- children born from the marriage of a man with hemophilia and a healthy woman.

Hemophilia in children

If hemophilia is suspected, the child should be examined and the diagnosis confirmed or refuted. If hemophilia is confirmed, then you need to be observed by a hematologist and have regular replacement treatment. Parents should also closely monitor the child and try to limit various injuries.

A child with hemophilia should not be given intramuscular injections, as they provoke bleeding. For such children, medications are administered only intravenously or given in tablet form. Given the impossibility intramuscular injections, teachers, educators and nurses should be warned about the illness so that they, along with everyone else, do not accidentally vaccinate the child as planned, etc. In addition, a child with hemophilia should be protected from surgical operations, and if for some reason they are life-saving necessary, careful preparation should be carried out in a hospital setting.

Hemophilia in women

So, a woman can have hemophilia only if her father, who has hemophilia, and her mother, a carrier of the disease gene, marry. The likelihood of having a daughter with hemophilia from such a union is extremely low, but still exists. Therefore, if the fetus survives, a girl with hemophilia will be born.

The second option for the appearance of hemophilia in a woman is a gene mutation that occurred after her birth, which resulted in a deficiency of coagulation factors in the blood. This is exactly the mutation that occurred in Queen Victoria, who developed hemophilia not inherited from her parents, but de novo.

Women with hemophilia have the same symptoms as men, so the course of the disease is exactly the same between genders.

Hemophilia in men

Types (types, forms) of the disease

The clinical manifestations of both types of hemophilia (A and B) are the same, so it is impossible to distinguish them from each other based on their symptoms. It is possible to accurately determine the type of hemophilia that a particular person suffers from only through laboratory tests.

Despite the same clinical manifestations, it is necessary to determine the type of hemophilia that a particular person suffers from, since the treatment of hemophilia A and B is different. That is, knowledge of the type of hemophilia is necessary for correct and adequate treatment, which will provide a person with a normal quality and life expectancy.

Signs (symptoms) of hemophilia

Hemophilia, as a rule, manifests itself from the first days of a newborn child’s life. The first signs of the disease are hematomas on the head, hemorrhages under the skin, bleeding from injection sites, as well as from a bandaged umbilical wound, which occur sporadically within a few days after ligation of the umbilical cord. During the first year of life, hemophilia in children is manifested by bleeding during teething, accidental bite of the cheeks or tongue. From the age of 1 year, when a child begins to walk, he develops the same symptoms of hemophilia as adults. These symptoms are combined into special group called hemorrhagic syndrome.

So, hemorrhagic syndrome, which is the main manifestation of hemophilia, includes the following symptoms:

• Hematomas;
• Hemarthrosis;
• Delayed bleeding.

Let us consider in detail the manifestations of hemorrhagic syndrome.

Hematomas (bruises) represent extensive hemorrhages into various tissues - under the skin, into the intermuscular space, under the periosteum, behind the peritoneum, into the structures of the eye, etc. Hematomas form quickly, and over time they tend to spread over an even larger area. Their formation is caused by the outflow of liquid, non-coagulating blood from damaged vessels. Due to the fact that the leaked blood remains liquid and uncoagulated for a long time, hematomas take a very long time to resolve. If the hematoma is large, it can compress nerves and large blood vessels, causing paralysis, severe pain, or even tissue necrosis.

The most common types of hematomas are skin and intermuscular hematomas, which are also the safest. Apart from pain and deterioration in the aesthetic appearance of the body, such hematomas do not cause any serious consequences. In the area of ​​the bruise on the skin or muscles, a person feels numbness, tingling, heat and pain, as well as limited movement. In addition to these manifestations, a hematoma can cause general symptoms - increased body temperature, weakness, malaise and sleep disturbance.

Hematomas that form in internal organs are dangerous. Retroperitoneal hematomas cause symptoms similar to acute appendicitis (acute abdominal pain, elevated temperature body, etc.), and they are very dangerous because they can lead to fatal outcome. Hematomas that form in the mesentery of the intestine can cause intestinal obstruction. Hematomas in the eye can lead to blindness.

Delayed bleeding. In hemophilia, internal and external bleeding develops. The most common bleeding is from the gums, nose and mucous membranes oral cavity. Internal bleeding rarely develops and only due to injury.

All bleeding in hemophilia is usually divided into ordinary And life threatening. Common ones include bleeding in muscles, joints, skin and subcutaneous fat. Life-threatening include bleeding into internal organs that are critical for human life, for example, the brain and spinal cord, heart, etc. For example, bleeding in the brain can provoke a stroke with subsequent death, etc.

Bleeding in hemophilia does not correspond to the severity of the injury, since the blood flows for a long time. A characteristic feature of bleeding is its delay. That is, after bleeding stops, it can resume several times over the next few days. As a rule, the first delayed bleeding develops 4 to 6 hours after injury. This occurs due to the fact that the formed thrombus turns out to be insolvent, and the blood flow tears it away from the vessel wall. As a result, a hole again forms in the vessel, through which blood flows out for some time. The bleeding finally stops when the wound on the wall of the vessel contracts and the blood clot is strong enough to close it reliably, without breaking under the influence of blood flow.

One should not think that a patient with hemophilia loses a lot of blood from minor cuts and abrasions. In such cases, bleeding stops as quickly as in healthy people. But during extensive surgical operations, wounds, and tooth extraction, bleeding can be prolonged and life-threatening. That is why injuries and surgical operations, and not banal scratches, are dangerous for hemophilia sufferers.

Hemarthrosis- These are hemorrhages in the joints, which are the most typical and frequent manifestation of hemophilia. With hemarthrosis, blood flows into the joint cavity from the tissues of the joint capsule. Moreover, in the absence of measures aimed at stopping bleeding and treating hemophilia, blood flows out of the vessels until the entire joint cavity is filled.

Hemarthrosis occurs only in children over 3 years of age and adults. Children under 3 years of age do not have hemarthrosis due to hemophilia, since they move little and, thus, do not load the joints.

Hemorrhages most often occur in large joints that experience heavy loads, such as knees, elbows and ankles. Somewhat less commonly, hemarthrosis affects the shoulder and hip joints, as well as the joints of the feet and hands. The remaining joints are almost never affected in hemophilia. Bleeding may occur continuously in the same joint, which in this case is called the target joint. However, hemorrhages can simultaneously occur in several joints. Depending on the severity of the disease and the age of the person, hemarthrosis can damage from 8 to 12 joints.

Bleeding in the joints in hemophilia occurs for no apparent reason, that is, in the absence of damage or injury that could disrupt the integrity of the blood vessels. With acute hemorrhage, the volume of the joint quickly increases, the skin over it becomes stretched, tense and hot, and with any attempt to move, sharp pain is felt. As a result of frequent hemorrhages in the joint cavity, a contracture is formed (a band that prevents the joint from moving normally). Due to contracture, movement in the joint is severely limited, and the joint itself takes on an irregular shape.

Due to constant hemorrhages in the joint, a sluggish inflammatory process begins, against which arthritis slowly develops. The bone that forms the joint, under the influence of proteolytic enzymes that absorb spilled blood, also undergoes decay. As a result, osteoporosis begins to develop, cysts filled with fluid form in the bones, and muscles atrophy. This process leads to disability of a person after a certain period of time.

Replacement therapy for hemophilia allows you to slow down the progression of arthritis and, thereby, delay the onset of permanent deformation and loss of functional activity of the joint. If replacement therapy hemophilia is not carried out, the joint becomes deformed and ceases to function normally after several hemorrhages.

Severity of hemophilia determined by the amount of coagulation factor in the blood. Thus, normally the activity of coagulation factors is 30%, and in hemophilia it is no more than 5%. Therefore, depending on the activity of coagulation factors, hemophilia is divided into the following degrees of severity:

• Extremely heavy– coagulation factor activity 0 – 1%;
• Heavy– coagulation factor activity 1 – 2%;
• Moderate– coagulation factor activity 3 – 5%;
• Lightweight– coagulation factor activity 6 – 15%.

Diagnosis of hemophilia

• Plasma recalcification time (in hemophilia it is longer than 200 seconds);
• APTT (for hemophilia is more than 50 seconds);
• Mixed APTT (with hemophilia within normal limits);
• PTI (for hemophilia it is less than 80%);
• INR (for hemophilia, more than normal, that is, more than 1.2);
• Autocoagulation test (more than 2 seconds);
• Reduced concentration of coagulation factors VIII or IX in the blood;
• Determination of antigen VIII and IX coagulation factors (in hemophilia, the level of these antigens is normal, which makes it possible to distinguish it from von Willebrand disease);
• Thromboplastin generation test (allows you to distinguish between hemophilia A and B). To perform this test, two reagents are added to the blood being tested - blood plasma from a healthy person, left for 1-2 days, as well as plasma precipitated with BaSO 4, after which the aPTT is determined in both samples. If the aPTT becomes normal in a test tube into which plasma has been added and left for 1-2 days, it means the person has hemophilia B. If the aPTT becomes normal in a test tube into which plasma precipitated with BaSO4 has been added, then the person has hemophilia A;
• DNA restriction fragment length polymorphism (the most reliable and accurate test, which makes it possible to identify mutations in genes that cause hemophilia and determine the type of disease - A or B).

In addition, there is a range of tests that make it possible to diagnose hemophilia during the period of intrauterine development of the fetus. Such tests are recommended for couples who are at risk of having a child with hemophilia (for example, the woman’s father or brothers suffer from hemophilia, etc.). So, To detect hemophilia in a fetus, the following tests are performed:

• Polymorphism of the lengths of restriction fragments of fetal DNA (material for the study is obtained during amniocentesis after the 15th week of pregnancy);
• Level of activity of coagulation factors (taken for research cord blood at 20 weeks of pregnancy).

Hemophilia - treatment

General principles of therapy

For replacement therapy of hemophilia A use blood cryoprecipitate, purified or recombinant factor VIII, as well as fresh citrated donor blood that has not been stored longer than a day. These replacement therapy agents are administered intravenously 2 times a day. The optimal means are factor VIII drugs, which should be used primarily for the treatment of hemophilia A. And only in the absence of factor VIII drugs, blood cryoprecipitate or citrated blood can be used as a means of replacement therapy for hemophilia.

For replacement therapy of hemophilia B use purified factor IX concentrates (for example, Conine-80), prothrombin complex preparations, complex drug PPSB and preserved blood or plasma of any shelf life. These replacement therapy agents are administered intravenously once a day. The best treatment for hemophilia B is factor IX concentrates. Prothrombin complex preparations, PPSB and banked blood are recommended only if factor IX concentrates are not available.

In developed countries of Europe and the United States, drugs made from blood (cryoprecipitate, citrated donor blood, canned or frozen plasma) have not been used for replacement therapy of hemophilia for more than 30 years, since, despite the selection and testing of donors, the possibility of transmitting severe infections cannot be excluded. such as AIDS, hepatitis, etc. However, in the countries of the former USSR, most patients with hemophilia are forced to use drugs obtained from donor blood. Therefore, if a person suffering from hemophilia has the opportunity to purchase factor VIII or IX drugs, then they should do this and use them rather than blood components, since this is much safer and more effective.

Hemophilia patients undergo replacement therapy continuously throughout their lives. In this case, replacement therapy drugs can be administered prophylactically or on demand. Prophylactically, drugs are administered when the level of clotting factor activity reaches 5%. Thanks to the prophylactic administration of drugs, the risk of bleeding, hemarthrosis and hematomas is minimized. On demand, drugs are administered when any episode of bleeding has already occurred - hemarthrosis, hematoma, etc.

In addition to replacement therapy, symptomatic drugs are used, which are necessary to relieve certain emerging disorders in the functioning of various organs and systems. For example, to stop bleeding, patients with hemophilia need to take orally aminocaproic acid (Acicapron, Afibrin, Amicar, Karpacid, Carpamol, Epsicapron), tranexamic acid (Cyclocapron, Tranexam, Troxaminate, Exacil), as well as Ambien or Desmopressin (a synthetic analogue of vasopressin) or apply a hemostatic sponge, fibrin film, gelatin, thrombin or fresh human milk topically to the area of ​​bleeding.

In case of hemorrhage in the joints, the patient must be put to bed and the limb immobilized in a physiological position for 2–3 days. Apply cold to the affected joint. If a lot of blood has spilled into the joint cavity, it should be quickly removed by aspiration (suction). After aspiration, a solution of Hydrocortisone is injected into the joint to stop the inflammatory process. After 2 - 3 days after hemorrhage in the joint, it is necessary to eliminate immobility, do a light massage of the affected limb and make various careful movements with it.

If, as a result of numerous hemorrhages in the joint, its function is lost, then surgical treatment is necessary.

Drugs for the treatment of hemophilia

• Purified or recombinant factor VIII (for hemophilia A) – Vilet, Immunat, Cogenate, Coate-DVI, Octanate, Recombinate, Fundy, Emoclot;
• Purified factor IX concentrates (for hemophilia B) – Aimafix, Immunin, Conine-80, Octaneine;
• Prothrombin complex preparations (for hemophilia B) – Autoplex, Feiba.

Hemophilia: history of observation of the disease, transmission of the hemophilia gene, types, diagnostic methods, treatment with blood clotting factors, prevention (opinion of a hematologist) - video

Hemophilia: description, symptoms, diagnosis, treatment (replacement therapy) - video

Hemophilia: statistics, nature of the disease, symptoms, treatment, rehabilitation measures for hemarthrosis (bleeding in the joint) - video

Specialist in research of biomedical problems. Bleeding gums - causes, treatment and prevention