Hemophilia in children: causes, symptoms and treatment. Dangers and treatment of hemophilia in children How does hemophilia manifest in children

Hemophilia is an inherited disease associated with genetic defects in blood clotting factors. It is transmitted to a child from a sick mother born into a family whose members suffered from such a disease. An important feature is that the mother herself can be completely healthy. She is a carrier of “broken” genes.

As a rule, the first signs of the disease begin to appear in children in the third year of life, much less often during the neonatal period and infancy. Hemophilia belongs to the group of hemorrhagic diathesis.

Causes of hemophilia in children:

The disease develops as a result of hereditary mutations in genes responsible for the production and functioning of blood clotting factors in a child. As a result of such pathological processes in the child’s body, the following occurs:

The formation of a complete blood clot is impaired

Bleeding does not stop or the process is significantly delayed

Significant blood loss develops even with minor bleeding

Forms of the disease:

Depending on the type of disturbance in the synthesis of coagulation factors, hemophilia can be of the following types:

1. classical - hemophilia A. Associated with a lack of antihemophilic globulin and thromboplastinogen

2. Christmas disease - hemophilia B. Caused by the absence of another blood clotting factor in the child’s blood - plasma thromboplastin or Christmas factor

3. hemophilia C . With this form of the disease, there is no thromboplastin in the child’s blood

4. hemophilia D . Caused by the absence of the fifth factor of blood clotting in children

5. acquired hemophilia. Not inherited. Appears at older ages.

Risk group: who is more susceptible to the disease?:

Hemophilia of any form predominantly affects boys. Girls and women can only suffer from hemophilia C and D. Inheritance is associated with changes in the X chromosomes. In most cases, the disease in children is severe, which limits the child’s capabilities and often leads to disability of the patient.

In newborns, manifestations of hemophilia are often absent or mild. In most patients, the first visible symptoms of the disease were detected at the age of 2-3 years. As the child gets older, the signs of hemophilia may weaken or, conversely, intensify, depending on many factors.

Manifestations of hemophilia in children:

The leading symptoms of hemophilia in children are bleeding and hemorrhage. Occurs with the slightest damage to blood vessels. In severe cases, bleeding appears for no apparent reason and is difficult to stop. Along with these manifestations of the disease, the following are noted:

Pale thin skin in a child
delicate body structure
poor development of subcutaneous fat tissue
intra-articular hemorrhages - hemarthrosis - one of the most dangerous symptoms of hemophilia in children. Often occur repeatedly, leading to serious deformations and disability of the child
Damage occurs more often in large joints: knees, elbows, ankles
increase in body temperature
inflammation in the joints
limited mobility of the joint affected by hemorrhage
internal bleeding, which is accompanied by damage to the child’s internal organs
pain in the area of hemorrhage if the hematoma compresses the nerve endings

In rare cases of the disease in girls and women, the symptoms will be the same. In the case of carriers of “hemophilic” genes, women have a high probability of severe intrapartum and postpartum blood loss.

The extent of bleeding and hemorrhage in children depends on the degree of reduction in the amount of coagulation factors. If the deficiency is minor, bleeding occurs only with serious injuries or during surgical interventions. With a severe deficiency of coagulation factors, bleeding is spontaneous, which makes it more dangerous.

Changes in the blood picture in hemophilia:

The blood picture will reveal a deficiency of a certain blood clotting factor, depending on the form of hemophilia. Its quantity decreases to different limits, up to complete absence.

Changes in hemophilia in children also occur in other blood cells. The following violations are noted:

Slight decrease in hemoglobin and red blood cell count
normal white blood cell count values
slight increase in the number of lymphocytes
platelet count is often within normal limits
platelet shape is incorrect
uneven platelet count
extremely low rate of blood clotting and blood clot formation
bleeding time is often within normal limits

It is important to distinguish hemophilia from other diseases:

There are a number of pathologies in which bleeding is one of the leading signs. Therefore, hemophilia should be distinguished from the following pathologies:

Pernicious anemia - caused by vitamin B12 deficiency
aplastic anemia - associated with disturbances in the synthesis of blood cells in the bone marrow
leukemia
polycythemia - increased number of red blood cells in the blood
sepsis
typhoid fever
jaundice
whooping cough
tuberculosis
Werlhof's disease
Herter's intestinal infantilism
Henoch-Schönlein disease

All the diseases presented differ from hemophilia in their characteristic clinical picture and changes in the blood. Based on research results, making a diagnosis rarely causes difficulties for doctors.

Features of the treatment of hemophilia in children:

Treatment of hemophilia is a long process that is not always highly effective. Often, the success of the treatment does not last long and only improves the child’s quality of life for a short period of time. At the same time, modern treatment methods and medications make it possible to successfully cope with the disease.

Diet therapy in the treatment of hemophilia

Food for a child suffering from hemophilia should have the following characteristics:

Nutrition and calorie content
diversity
high content of proteins and fats
rich in vitamins
high levels of egg yolks in the diet

Drug therapy for hemophilia

All medications used to treat hemophilia in children have the following effects:

Improve blood clotting in various ways
reduce the duration of bleeding
increase the tone and strength of the walls of blood vessels

Calcium preparations in the treatment of hemophilia

Calcium helps reduce vascular permeability and also increases capillary resistance. Due to this action, these drugs help improve blood clotting. The most common forms are calcium lactate and gluconate.
Important! To increase calcium retention in the blood, it is recommended that children be given drugs in combination with fish oil in any form.

Iron supplements

Medicines are prescribed to treat any form of hemophilia. Used in large dosages over long courses. During periods of remission of hemophilia, combination treatment is used, which includes iron and calcium supplements.

Blood transfusion, administration of clotting factors

This is a variant of replacement therapy, which consists of administering to the patient the missing coagulation factors, blood elements, as well as the prothrombin complex. Children with hemophilia receive repeated intravenous blood infusions for 8 weeks with breaks of 6 days. In some cases, blood obtained from a donor is administered. Often, only separate parts of the blood are infused: plasma, platelets, erythrocytes or leukocytes, depending on the child’s condition and the form of hemophilia. Heparin is prescribed with the administration of prothrombin complex to prevent the formation of blood clots.

Application of a hemostatic sponge

This is a local remedy to stop bleeding. Made from blood plasma. Used directly at the site of vessel damage. Gives a quick and long-lasting effect. More often used for minor bleeding, including on mucous membranes.

Vitamins in the treatment of hemophilia

Mandatory medications used for the treatment and prevention of hemophilia in children are vitamins. The prescription of the following vitamins is justified: A, B2, B6, B12, C, K, P

Hemostatic agents

In modern medicine, the use of hemostatics is widespread, which not only help stop bleeding, but also strengthen the walls of blood vessels: etamsylate, aminocaproic acid, dicinone.

Treatment of joint hemorrhage

The affected joint should be kept as motionless as possible. In the future, blood clots should be removed from the damaged area, then corticosteroids (prednisolone) should be administered.

A child suffering from hemophilia must always have with him a medical document containing the following information:

Form of hemophilia
blood type
Rh factor

Prevention and prognosis of the disease:

It is necessary to prevent various injuries and damage to the integrity of blood vessels in children suffering from hemophilia. You should protect your child’s joints and avoid excessive physical exertion, which can cause bleeding and hemorrhage.
The prognosis for hemophilia is often favorable. Currently, this disease is quite easy to identify. Rational treatment with a gentle regimen and proper nutrition of the child gives a positive result.

In rare cases, with extensive and often repeated injuries to the joints, the child may become disabled, which is associated with limited mobility.

Hemophilia is very rare in children - 10-14 cases per 100,000. If a child already has symptoms of the disease at the beginning of his extrauterine life, then most often this indicates a severe course. The basis of the clinical picture is the development of hemorrhagic syndrome.

Hemophilia is a hereditary nosology, the development of which is caused by a mutation of genes that are responsible for the synthesis of 8, 9 and other blood clotting factors. There is such a classification according to clinical forms.

Coagulation factor VIII deficiency is hemophilia A, or classical.
Deficiency ix - hemophilia B, or Christmas.
Hemophilia C occurs - its percentage of cases of this disease is not higher than 1-4.
The combination of deficiency of factors 8 and 9 is called hemophilia A + B - a very rare nosology, the symptoms are pronounced.

If activity viii or ix is reduced, then blood clotting is impaired - hemorrhagic syndrome occurs. Increased bleeding and tendency to bleed can lead to severe complications and even death.

Inhibitory hemophilia is an acquired pathology associated with the introduction of replacement therapy to children with an existing disease. About this form and its treatment.

The table below presents the degrees of severity based on the percentage of clotting factor in contrast to the normal value and clinical symptoms.

Inheritance

Hemophilia is a hereditary disease linked to sex - with the X chromosome. Since women have 2 such chromosomes, the presence of the hemophilia gene on one of them will not lead to the development of the disease, but will only make the owner of such a combination a carrier. In men, the picture is different - they have one X chromosome, and the mutation linked to it will manifest itself in any case. Therefore, it is mostly boys who get sick.

Hemophilia can also occur in girls, but only when her father has hemophilia and her mother is a carrier of this gene. If the gene activity is high, then girls suffer from hemophilia, being simply a carrier.

Symptoms in children by age

From the first minutes of life, a pathology of the blood system can be suspected. Hemophilia in newborns will manifest itself as follows:

severe cephalohematoma;
prolonged bleeding from the bandaged navel, which does not heal for a long time - a month or more;
development of bleeding and hemorrhages in the central nervous system due to birth trauma, minor injuries with manifestation of neurological symptoms, paresis, ptosis, etc.;
prolonged bleeding from injection or vaccination sites, when taking blood from a finger.

Early manifestation of the disease indicates a significant lack of blood clotting factors. If this disease is already confirmed in utero, then for delivery it is necessary to take safe methods - cesarean section, refusal of a vacuum extractor, obstetric forceps.

If hemophilia manifests itself in an infant before 28 days, it can be considered severe. Intracranial hematomas are very dangerous, which occur in 10% of newborns with a severe form. These hemorrhages may not manifest themselves at all. Neurological symptoms in such young patients occur in only 0.4% of cases. The presence of symptoms in the first months of life up to the age of 1 year indicates a significant severity of the course.

Symptoms of moderate severity in children appear at approximately 20-22 months.

At 6 years old, children have the same symptoms as adults: hematomas, hemarthrosis and bleeding. At this age, hematuria, the discharge of blood in the urine, can sometimes occur.

Bleeding in children

The basis of the hemophilia clinic, regardless of the type, is hemorrhagic syndrome, which is characterized by hematomas, hemorrhages in the muscles, skin, body cavities, joints, and increased bleeding.

Features of bleeding in children:

during teething;
injections and skin punctures;
extraction (removal) or loss of baby teeth;
cerebral bleeding with or without cerebral symptoms;
at the age of 8-10 months, abrasions and bruises appear with the ability to walk;
may occur spontaneously, which indicates a severe form of the disease;
causeless nasal;
while cleaning itches;
from the throat and larynx after injury or without it, when aspiration of blood into the respiratory tract is possible;
hemorrhages in the eyeball with deterioration of vision up to blindness;
hematuria at an older age (after 6 years);
rare bleeding from the gastrointestinal tract.

Hemorrhages in muscles and joints

Hemarthrosis is hemorrhage into the joint capsule. In hemophilia, the knee, elbow and ankle joints are predominantly affected. The typical age of development in children is 3 years, when the child is very active, learns about his surroundings and often falls and hurts his knee.

This leads to the accumulation of blood in the joint capsule, resulting in dysfunction of the joint. As a result, the child's gait changes. The muscles of the limb with the affected joint atrophy, movements become painful.

Injuries and intramuscular injections lead to the development of bleeding into muscle tissue. As a result of a hematoma, the muscle becomes painful, fluctuation under the fingers is determined, and muscle function is impaired. The iliacus and calf muscles suffer.

Ecchymoses

Frequent signs of hemophilia in children are bruises and other skin rashes. Ecchymosis is what bruises are called in everyday life; their size is more than 3 mm. They appear on the mucous membranes. In details .

In severe hemophilia, the activity of factor 8 is reduced and hemorrhages in the skin and mucous membranes occur spontaneously. Characteristic signs of hemorrhagic vasculitis.

Diagnostics

Diagnosis of hemophilia in children can be carried out in utero.

Family history assessment.
Conducting a PCR analysis to identify defective genes in a woman.
If a woman has the hemophilia gene, and an ultrasound reveals that she will have a son, then a chorionic villus biopsy is performed to analyze her DNA.
Carrying out cordocentesis in the second trimester of pregnancy - umbilical cord puncture with blood sampling for testing. This allows us to identify insufficiency of blood coagulation factors VIII and IX in the fetus. Recently, normal indicators for this stage of pregnancy have been determined.

After birth, the baby's blood is tested.

The first stage of screening is a coagulogram and determination of platelets in a general blood test. In a coagulogram in hemophilia, the APTT (activated partial thromboplastin time) increases, and the bleeding time prolongs. If the form is not severe, then the coagulogram remains normal. The platelet count is not affected.
Correction test - mixing the plasma of a sick and healthy person.
Determination of inhibitor - immunoglobulin G antibodies for coagulation factors.

Differential diagnosis

Insufficiency of the blood coagulation system manifests itself in many diseases; it is important to distinguish them in a timely manner. The following nosologies have similar clinical symptoms, namely increased bleeding:

vitamin K deficiency;
thrombocytopenia, thrombocytosis;
von Willebrand disease;
other hereditary or acquired deficiency conditions.

Von Willebrand disease differs from hemophilia in the type of inheritance (autosomal) and the missing substrate - von Willebrand factor, which is responsible for the attachment of platelets to damaged areas of blood vessels. Clinic – spontaneous bleeding from the capillary bed: from the mucous membranes, internal organs.

Treatment

Treatment of hemophilia in children is carried out using replacement of missing factors. Use drugs that contain a clotting concentrate:

cryoprecipitate;
fresh frozen plasma up to 4 hours of storage;
antihemophilic globulin;
freshly collected blood for up to 24 hours;
recombinant factor viii.

Treatment of children is carried out with the following replacement drugs for hemophilia A:

Coate-DVI;
Immunate (Baxter);
Emoklot (Kedrion);
Octanate (Octapharma);
Hemoctin;
Beriate and others.

For coagulation factor 9 deficiency, or hemophilia B, the following drugs are used:

Agemfil V;
Immunil;
Imafix DI;
Octanine-F;
Mononine.

Consultations with pediatric specialists of related specialties are also important: neurologist, cardiologist, surgeon, ophthalmologist, ENT specialist, gastroenterologist and others, depending on the symptoms.

Prohibited drugs

The following medications should not be prescribed to children with hemophilia:

non-steroidal anti-inflammatory drugs - Ibuprofen, Aspirin, Diclofenac, Indomethacin and others;
anticoagulants and antiplatelet agents, with the exception of cases of acute thrombosis - Heparin, Fraxiparin, Warfarin, Clexane;
fibrinolytics – Streptokinase, Alteplase.

Vaccinations in children

Children who have hemophilia need to be vaccinated. This is especially true for the hepatitis B vaccine. It is important that vaccination is carried out outside the stage of exacerbation and active bleeding.

The vaccine for children with hemophilia should be administered by subcutaneous injection or oral administration, especially in children with a severe form of the pathology. Administration of the vaccine intramuscularly or intravenously should be avoided due to the risk of hematoma formation.

If only intramuscular and intravenous vaccinations are available to prevent a particular disease, then sick children should be given clotting factors prior to vaccination.

In case of moderate and mild forms, the issue of vaccination and replacement therapy before it is decided individually.

Prevention

If a child was born with hemophilia, then we can only talk about secondary prevention of symptoms. The following methods are used for this:

replacement therapy;
arrangement of everyday life for less traumatization of the child;
regular monitoring of the state of the blood coagulation system, namely APTT and bleeding time;
sanatorium-resort treatment in orthopedic sanatoriums;
the mandatory presence of clotting factor concentrates “on hand”;
training the whole family to help the patient;
attending a hemophilia school;
carry information about the disease and blood type with you;
a diet based on healthy eating.

Known as the "royal disease". This rare disease is inherited only and, as a rule, manifests itself in adolescence. Its main symptom is an increased tendency to bleed and blood clotting for too long.

Hemophilia in children occurs most often in boys, but the disease itself is transmitted only through women along with a mutated X chromosome.

If this disease is not treated in a timely manner, there is a possibility that the patient will become disabled closer to adolescence. This occurs because the body loses its ability to produce substances needed for blood clotting.

Brief description of the disease

This disease belongs to the group of hereditary coagulopathies; its primary source is a lack of plasma coagulation factors, which can cause prolonged bleeding even with minimal trauma.

Hemophilia is diagnosed in approximately 1 child per 15 thousand people, and mainly in boys. Since this pathology is detected at an early age, pediatrics is involved in its study and treatment.

Currently, doctors distinguish three types of hemophilia, depending on the lack of a particular blood clotting factor:

A (classic) - is the most common form of the disease and occurs in more than 80% of patients. It is associated with a lack of antihemophilic globulin - coagulation factor 8. It provokes disruption of the formation of active thrombokinase;
type B - observed in 10-13% of patients, caused by insufficient content of the plasma component of thromboplastin - factor 9. This type of illness is also known as Christmas disease;
hemophilia C - it is diagnosed in only 2% of children; the primary source of this pathology is a lack of coagulation factor 11 (thromboplastin).

There are also other forms of this disease in medicine, but they account for about 0.5% of cases. Therefore, experts do not consider them to be the main ones. Symptoms and severity of the disease may vary. They depend on a lack of activity of coagulation factors.

In severe forms of the disease, the deficiency of a certain factor will be about 1%, which will lead to the development of hemorrhagic syndrome from the first months of the baby’s life. The child will suffer from periodic sudden hemorrhages in the muscles, internal organs and joints.

This pathology is detected during the birth of the baby, when bleeding from the umbilical cord will not stop for a long time. In the early years of life, a sure sign of hemophilia is excessive bleeding associated with the eruption of baby teeth.

If a child suffers from moderate hemophilia, the plasma factor deficiency will be approximately 2-5%. In this case, the disease will fully make itself felt even in preschool age, exacerbations will occur about 3 times a year. Bleeding will not be too profuse and short-lived.

Causes

Hemophilia occurs for only one reason - mutations in the genes responsible for blood clotting. It is these genes that are responsible for the timely stopping of bleeding and the formation of a blood clot when the integrity of the capillaries is damaged.

If there is a lack of certain factors, the blood will not clot for a longer time, since the formation of a blood clot that can completely clog the vessel wall will take a long time. There are no other primary sources for the development of hemophilia.

What changes do mutated genes lead to?

If there is a lack of any blood clotting factor in the body, pathological changes will occur that negatively affect internal organs and tissues:

if the bleeding is frequent and profuse, the child will develop chronic anemia. This condition leads to oxygen starvation and also interferes with the normal growth and development of internal organs and tissues;
Some hemorrhages are accompanied not only by bruises, but also contribute to compression of the baby’s brain, as well as blood vessels and nerve trunks. Such actions lead to inhibition of muscle development and motor activity;
damage to the joint capsules - causes inflammation of the joints, disruption of the nutrition of cartilage and bone tissue. If the pathology progresses to an advanced form, the person will develop arthrosis, and the joint spaces may also fuse, which will limit the mobility of the affected limb or spinal column;
large hematomas can compress soft tissues and some internal organs (most often the kidneys are affected). All this can lead to excretory dysfunction or chronic inflammation.

If a person does not have problems with blood clotting, when receiving wounds and cuts, the bleeding will stop within a few minutes. And in patients suffering from hemophilia, a blood clot forms no earlier than after 6-7 hours. When a cerebral hemorrhage occurs, hemorrhagic stroke, paralysis and even death of the child often occur.

Symptoms

Despite the fact that the general signs of hemophilia have long been identified by specialists, most people have a misconception about this disease. They believe that if a person simply cuts his finger with a knife, this will certainly lead to his death.

Doctors say that this idea is fundamentally wrong. A person suffering from hemophilia will not bleed from minor injuries, but will bleed longer than a healthy person.

In addition, with this disease, even minor bruises and abrasions can cause subcutaneous hemorrhages and discharges into the intermuscular space. Hemophilia can also be identified by the following symptoms:

blood constantly flows even after minor injuries: insect bites, bruise during a fall, needle prick, etc.;
Large hematomas will always form at the site of injury;
when replacing baby teeth with permanent ones, schoolchildren experience nosebleeds;
heavy bleeding after simple operations, for example, removal of nasal polyps;
nosebleeds for no apparent reason.

Over time (closer to 15 years), the child may also develop new symptoms:

digestive problems;
temporary increase in body temperature caused by unknown reasons;
the appearance of blood in the urine and feces;
hemorrhage in large joints. Hemarthrosis is always accompanied by pain, swelling and limits joint mobility. If such hemorrhages are repeated periodically, the joint may begin to deform, which will entail unpredictable consequences.

External signs

Experienced specialists can suspect this pathology in a baby based on external signs, without laboratory and instrumental examinations. The following factors indicate its appearance:

unstoppable bleeding from the tied umbilical cord;
the appearance of cephalohematomas - an area where blood accumulates after a birth injury (under the periosteum of the skull). A swelling may also appear on the skull, which will begin to increase after 2-3 days;
with weak pressure on the baby's body or tight swaddling, hemorrhage will occur in the subcutaneous tissue.

The size of the hemorrhages will not correspond to the damage and pressure received; the bruises will be several times larger than the affected area.

What are hemarthrosis and how do they manifest?

Hemarthrosis is a typical joint lesion caused by hemorrhage into the joint capsule. In most cases, hemophilia in children affects the knee and elbow joints, but sometimes hemorrhage can even occur in the hip or intervertebral joint.

If a large amount of blood accumulates in the joint capsule, this will lead to the formation of a huge hematoma. It will compress the cartilage and prevent the flow of nutrients into the cartilage tissue.

All this together can lead to infection or inflammation of the area. The child will suffer from severe pain and increased body temperature. In addition, upon external examination, the following symptoms will be noticeable:

the joint will significantly increase in volume, the surface tissues will appear swollen;
redness of the skin in the joint area;
increased skin temperature in the affected area.

In the absence of timely and competent treatment, when resorption occurs, part of the fibrin will remain inside the joint, which leads to tissue scarring. This is due to the fact that children's bones are delicate and fragile, and also react sensitively to malnutrition. Formed scars will impede the mobility of bone joints and also block the nutrition of the periosteum.

If such hemorrhages are repeated, the connective tissue begins to grow rapidly. This will lead to fusion of the bone surfaces and complete immobility of the joint.

With such damage to the joints, the limbs will soon begin to deform. They will change not only in shape and size, but will also lead to gait disturbance. In some cases, in the absence of timely treatment, hemophilia leads to disability already at school age.

Diagnostics

If a child is suspected of having hemophilia, several specialists will examine and diagnose him: a pediatrician, a hematologist and a neonatologist. In addition, if concomitant diseases appear, consultation with a gastroenterologist, pediatric traumatologist and otolaryngologist is also required.

If a married couple is at risk of having a child with hemophilia, doctors recommend undergoing genetic counseling at the stage of pregnancy planning. The presence of such a gene can be determined by molecular genetic research and analysis of genealogical results.

Parents can confirm the diagnosis of hemophilia after the birth of their child using a number of laboratory tests. The most reliable method of identifying this disease is a blood test, which allows doctors to determine the following indicators:

how long does it take for capillary and venous blood to clot;
whether the formation of blood clots is impaired;
reduced prothrombin consumption;
how long does recalcification take?
deficiency of antihemophilic factors;
the number of platelets in the blood and the duration of bleeding according to Duke;
When hemarthrosis appears, the diagnosis of hemophilia also includes:
x-ray of joints (if internal bleeding is suspected);
Ultrasound of the abdominal cavity (for hematomas on the abdomen and sides);
general urine analysis;

Only after the doctor understands what form and degree of the disease the little patient is faced with will the optimal treatment method be selected for him.

Treatment

Since hemophilia is a rather specific disease, most children with it begin to feel inferior. To eliminate the risk of mental trauma and feelings of inferiority, it is important for parents to instill in their child the right attitude towards their health.

Treatment of hemophilia in children includes not only drug therapy; the child’s parents will also need to monitor his diet and physical activity. In addition, the mother and father must know how to provide first aid in case of injury and the specifics of caring for the baby.

In order to maximally strengthen the body and immunity, the child’s nutrition must be competent and balanced. The diet should include more fresh vegetables and fruits, as well as lean meat and dairy products. The child needs to be provided with a gentle regime that will minimize the likelihood of injury, as well as the occurrence of dangerous situations.

To reduce the risk of bleeding, a sick baby needs to receive fresh donor blood transfusions every month. To ensure maximum safety, blood should be taken from the child's relatives. It is also actively used in the treatment of hemophilia:

antihemophilic plasma;
antihemophilic globulin;
concentrated antihemophilic globulin extracted from fresh frozen plasma.

If modern medications are used for therapy, the duration of the course and dosage of the drug must be strictly selected by the attending physician. For the treatment of patients with hemophilia, it is recommended to use only virus-inactivated drugs.

Prevention

Despite the fact that this disease is considered incurable, the patient’s health still needs to be maintained in satisfactory condition. First of all, for this it is necessary to carry out blood transfusions with the missing coagulation factor in a timely manner. Such actions will several times reduce the likelihood of hemorrhage in the muscles and joints.

At home, parents should know how to properly care for their baby and what to feed him. Children suffering from the “royal disease” should not play sports or lead an active lifestyle, as this is accompanied by an increased risk of injury.

Prevention of hemophilia also includes counseling in special medical genetic centers, where parents will be told all about the features of this disease.

Hemophilia is a very serious disease. To ensure a normal life for the baby, parents must take maximum care of the child and instill in him self-confidence.

Despite the fact that the pathology is incurable, adequate diagnosis and compliance with medical recommendations can make the child’s life as easy as possible and reduce the likelihood of death.

Hemophilia is a genetic disease, the manifestation of which is completely impossible to get rid of. Its peculiarity is that the presence of a defective gene on the X chromosome entails a failure in the process of blood coagulation. The carrier of this gene is a woman, but only men suffer from hemophilia. It is extremely rare to find manifestations of this disease in women. How hemophilia manifests itself in children, why it is dangerous and how it can be treated, we will consider further.

Highlight three main types of hemophilia, the presence of which plays a key role in the selection of treatment:

Type “A” - accompanied by the absence of the protein antihemophilic globulin (clotting factor VIII), is the most common type of hemophilia.

Type “B” is much less common, and treatment is much more difficult, as it is accompanied by an acute lack of blood clotting factor IX, which entails the impossibility or delayed formation of a secondary coagulation plug.

Type “C” is the rarest type, the manifestation of which is found in very few people all over the world. Characterized by a lack of blood clotting factor XI.

The manifested symptoms of all types of hemophilia may be identical, but the treatment is radically different, therefore this aspect of the patient is determined primarily after the blood type and Rh factor.

Features of the disease in children

The disease has already manifested itself from the first days of a child's birth, but diagnosis, if indicated, can be carried out from the 20th week of pregnancy. The first thing doctors pay attention to is how quickly the blood from the umbilical wound clots and whether bleeding occurs after some time.

Ask your question to a clinical laboratory diagnostics doctor

Anna Poniaeva. She graduated from the Nizhny Novgorod Medical Academy (2007-2014) and Residency in Clinical Laboratory Diagnostics (2014-2016).

In children, the risks and danger of the disease are much higher, especially in the period from 1 to 6 years, when their physical activity increases sharply.

Frequent falls, bruises and microtraumas can lead to a number of negative consequences, including:

Hemorrhages into the joint cavity, which entails infection, inflammation and problems with the musculoskeletal system in the future.
Formation of subcutaneous hematomas that cannot resolve on their own and require surgical intervention.
High risk of birth injuries, which occurs when the cranial cavity is compressed while passing through the birth canal.
Frequent increase in body temperature for no apparent reason, which indicates the presence of an inflammatory process.
The appearance of sputum mixed with blood, which develops due to severe coughing and rupture of capillaries.
Abdominal pain not associated with eating.
Increased bleeding from the nose.

Such children require increased attention and control from their parents.

In turn, parents should know how to help correctly and what needs to be done in critical situations to save a child’s life.

Causes

Hemophilia is a hereditary disease, so it is impossible to influence its appearance. A defective gene can only be inherited from the mother, so it is important at the pregnancy planning stage to collect a complete history of the presence of genetic diseases in blood relatives.

Symptoms in children

Clinical manifestations of hemophilia visually visible from the first hours of life. All symptoms are usually combined into hemorrhagic syndrome, which includes such dangerous manifestations as:

Bleeding can be external - that is, arising in the process of damage to the skin and mucous membranes, and internal - developing in internal vital organs.

The danger of bleeding is that, due to the lack of necessary clotting factors, coagulation occurs much more slowly than in healthy children.

Bleeding from internal organs may be accompanied by symptoms such as:

nausea, vomiting with blood, diarrhea with blood;
the appearance of black feces;
acute abdominal pain accompanied by bloating;
cyanosis of the area around the navel;
lack of appetite and rapid weight loss;
signs of general intoxication;
elevated body temperature for a long time without signs of acute respiratory infections.

Most often, bleeding occurs during teething, nosebleeds and from the mucous membranes of the oral cavity when eating rough food.

This, in turn, is an open gate for infection, and therefore requires treatment.

It was known in the ancient world. However, it was first identified as an independent disease and described in detail in 1874 by Fordyce. Hemophilia is a very serious and dangerous disease.
Hemophilia is a hereditary disease characterized by an increased tendency to bleed. The cause of this disease is the presence of a “bad” mutation in the sex X chromosome. This means that there is a certain section (gene) on the X chromosome that causes such a pathology. This altered gene on the X chromosome is the actual mutation (recessive). Due to the fact that the mutation is located on the chromosome, hemophilia is inherited, that is, from parents to children.

How do genes work and what are genetic diseases?

Let us consider the concept of recessive and dominant genes, as this is necessary for further understanding of the characteristics of the manifestation of hemophilia. The fact is that all genes are divided into dominant and recessive. As you know, each person receives a set of genes from both parents - mother and father, that is, he has two variants of the same gene. For example, two genes for eye color, two for hair color, and so on. Moreover, each of the genes can be dominant or recessive. The dominant gene is expressed Always and suppresses the recessive one, but the recessive one appears only when it is present on both chromosomes - maternal and paternal. 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 his mother, and a gene for blue eyes from his father, then he will be born with brown eyes, that is, the dominant gene for brown eyes will manifest itself and suppress the recessive gene for blue eyes. In order for a child to be born with blue eyes, he must receive two recessive blue-eyed genes from both his mother and father, only in this case will a recessive trait appear - blue eyes.

Why is the disease transmitted through the female line, and only men get it?

Let's return to hemophilia. The peculiarity of hemophilia is that women are carriers of this pathology, and men are affected. Why is this so? The hemophilia gene is recessive and is located on the sex X chromosome. Its inheritance is gender-linked. That is, for its manifestation it is necessary to have two X chromosomes with such a mutation. However, a woman has two sex X chromosomes, and a man has X and Y chromosomes. Therefore, a woman must have a mutation in both X chromosomes for the disease hemophilia to manifest. However, such a fact is impossible. Why? When a woman becomes pregnant with a girl with mutations in both X chromosomes, at 4 weeks of pregnancy, when the process of forming the fetus’s own blood begins, a miscarriage occurs, since such a fetus is not viable. Therefore, a girl can only be born with a mutation in one X chromosome. And in this case, the disease will not manifest itself, since the dominant gene of the second X chromosome will not allow the recessive gene, leading to hemophilia, to manifest itself. Therefore, women are only carriers of hemophilia.

Boys have one X chromosome and the other Y, which does not contain the hemophilia gene. In this case, if there is a recessive hemophilia gene on the X chromosome, there is no other dominant gene on the Y chromosome to suppress this recessive one. Therefore, the gene manifests itself in the boy, and he suffers from hemophilia.

Hemophilia in women is a “Victorian disease”
There is only one known example of a woman with hemophilia in history - Queen Victoria. However, this mutation occurred in her after birth, so this case is unique and is an exception that confirms the general rule. Due to this exceptional fact, hemophilia is also called the “Victorian disease” or “royal disease.”

What are the types of hemophilia?

Hemophilia is divided into three types A, B and C. With hemophilia of all three types, there is not the required amount of protein in the blood, which is called a coagulation factor and ensures blood clotting, as well as stopping bleeding. There are only 12 such coagulation factors. With hemophilia A, there is a deficiency of factor number VIII in the blood, with hemophilia B there is a deficiency of factor number IX, and with hemophilia C there is a deficiency of factor number XI. Hemophilia type A is classic and accounts for 85% of all types of hemophilia; hemophilia B and C account for, respectively, 15% of the total number of all cases of hemophilia. Hemophilia type C stands apart, since its manifestations differ significantly from the manifestations of hemophilia B and A. The manifestations of hemophilia A and B are the same. Hemophilia C is most often found among Ashkenazi Jews, and women, not just men, can be affected. Today, hemophilia C is generally excluded from hemophilia, so we will consider hemophilia A and B.

What is dangerous for patients with hemophilia?

How does hemophilia manifest? What are its symptoms? There is an opinion among people that a patient with hemophilia should be protected from the slightest minor injuries: cuts, bites, scratches, etc. Since these minor injuries can lead to death due to blood loss. However, this is a clear exaggeration. Severe injuries, severe bleeding, tooth extraction and surgical operations are dangerous for such people. Of course, you should not neglect safety measures - you must beware of bruises, injuries, cuts, etc. Lacerations are especially dangerous. It is especially necessary to explain the norms of behavior to children and adolescents with hemophilia, since children and adolescents have high physical activity and a lot of contact games, which can lead to accidental injuries.

Congenital and childhood symptoms of hemophilia

If a child has hemophilia A or B, the following symptoms are detected from birth:

formation of hematomas (bruises) in a variety of places (under the skin, in joints, in internal organs). These hematomas are formed due to blows, bruises, injuries, falls, cuts, etc.
blood in urine
excessive bleeding due to trauma (tooth extraction, surgery)

Newborn children, as a rule, have hematomas on the head, buttocks, and bleeding develops from the tied umbilical cord. Children also often experience bleeding and hemorrhage during teething. In childhood, bleeding from the nose and mouth occurs quite often. The cause of nose and mouth bleeding is biting the cheek, tongue, picking the nose and wounding the nasal mucosa with a fingernail, etc. Trauma to the eye followed by bleeding into the eye can lead to blindness. Noteworthy is the fact that these symptoms are especially pronounced at an early age, and as a person grows older, they become less pronounced. However, the main property - the main symptom - the tendency to bleed, of course, remains.

When does bleeding develop in patients with hemophilia?

Patients with hemophilia are characterized by the development of bleeding not only immediately after injury, but also after a certain period of time the development of repeated bleeding. Such repeated bleeding can develop after a few hours or after a few days. For these reasons, if a patient with hemophilia needs surgery or tooth extraction, then it is necessary to carefully prepare the person for the operation and carry it out only if absolutely necessary. Prolonged bleeding also contributes to the formation of post-hemorrhagic anemia.

In what areas are hemorrhages more common in patients with hemophilia?

The frequency of hemorrhages in the joints in hemophilia reaches 70%, the frequency of formation of subcutaneous hematomas (bruises) is 10-20%. And most rarely with hemophilia, hemorrhages occur in the central nervous system and gastrointestinal bleeding. Hematomas are predominantly localized in those places where the muscles experience the maximum load - these are the muscles of the thighs, back and lower legs. If a person uses crutches, hematomas also appear in the armpits.

Hematomas are common for patients with hemophilia

Hematomas of patients with hemophilia resemble a tumor in appearance and resolve over a long period of time, which is up to 2 months. Sometimes, when the hematoma does not resolve for a long time, it may be necessary to open it. With the formation of extensive hematomas, compression of surrounding tissues and nerves is possible, which leads to disturbances in sensitivity and movement.

Hemoarthrosis is a common manifestation of hemophilia

Bleeding in the joints is the most specific symptom of hemophilia. Hemorrhages in the joints are the cause of the formation of joint diseases - hemoarthrosis - in patients with hemophilia. This damage to the joints leads to diseases of the entire musculoskeletal system, and, as a result, to disability. Hemoarthrosis develops most quickly in patients with severe forms of hemophilia, in other words, the more severe the hemophilia, the faster a person develops hemoarthrosis. The first signs of hemoarthrosis develop by 8–10 years of age. In severe hemophilia, hemorrhages in the joints occur spontaneously, and in mild cases, they occur as a result of injuries.

Blood in urine, kidney disease in hemophilia

Hematuria (blood in the urine) may be asymptomatic or accompanied by acute pain, an attack of renal colic, which occurs when blood clots pass through the urinary tract. Patients with hemophilia may develop kidney diseases such as pyelonephritis, hydronephrosis and capillary sclerosis.

What medications should people with hemophilia not take?

For patients with hemophilia, drugs that reduce blood clotting, such as acetylsalicylic acid (aspirin), butadione, etc., are strictly contraindicated.

Signs of hemophilia in newborns

If a newborn baby does not stop bleeding from the umbilical cord for a long time and has hematomas on the head, buttocks and perineum, it is necessary to be tested for the presence of hemophilia. Unfortunately, it is currently impossible to predict the birth of a child with hemophilia. There are methods of prenatal (prenatal) diagnosis, but they are not widespread due to their complexity. If a boy has hemophilia in his family, then his sisters are carriers of the hemophilia gene and they may have children with hemophilia. Therefore, family history is of great importance in predicting the birth of children who may suffer from this disease.

Diagnosis of hemophilia

The following laboratory methods are used to diagnose hemophilia:

determination of the amount of coagulation factors in the blood
determination of blood clotting time
amount of fibrinogen in the blood
thrombin time (TT)
prothrombin index (PTI)
international normalized ratio (INR)
activated partial thromboplastin time (aPTT)
mixed – APTT

In the presence of hemophilia, there is an increase above normal values of the following indicators: blood clotting time, activated partial thromboplastin time (APTT), thrombin time (TT), international normalized ratio (INR). There is also a decrease below normal values of the prothrombin index (PTI), but normal values of mixed aPTT and the amount of fibrinogen. The main indicator characterizing hemophilia A and B is a decrease in the concentration or activity of coagulation factors in the blood, VIII - for hemophilia A and IX - for hemophilia B.

Treatment of hemophilia

This disease is incurable and can only be controlled and provided with supportive therapy. To do this, people with hemophilia are given solutions of a clotting factor that they do not have enough in their blood. Currently, these coagulation factors are obtained from the blood of donors or the blood of specially raised animals. With proper treatment, the life expectancy of patients with hemophilia does not differ from the life expectancy of people who do not suffer from this pathology. However, due to the fact that drugs for the treatment of hemophilia are made from the blood of donors, patients with hemophilia are at risk for such dangerous diseases as