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Hemophilia: symptoms, treatment, causes. Haemophilia in women, men, children

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Hemophilia - a hereditary disease caused by deficiency of plasma clotting factors and is characterized by an increased tendency to hemorrhage. The prevalence of hemophilia A and B is 1 in 10,000-50,000 male representatives.

Most often the disease debut falls on a young child, so the child has hemophilia is an actual problem of Pediatrics and Pediatric Hematology. In addition to hemophilia, the children there are other hereditary hemorrhagic diathesis: hemorrhagic telangiectasia, thrombocytopathy, Glantsmana disease etc.

What it is?

Hemophilia - a hereditary blood disease, which is caused by the congenital absence or reduction in the number of blood clotting factors. The disease is characterized by impaired blood clotting, and is manifested in frequent bleeding into joints, muscles and internal organs.

This disease occurs with a frequency of 1 in 50,000 infants and hemophilia A It is diagnosed more often: 1 case per 10,000 people the disease, and hemophilia B - less: 1: 30000-50000 inhabitants male. Hemophilia inherited recessive traits associated with the X-chromosome.

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In 70% of cases, hemophilia is characterized by severe, steady progress and leads to early disability of patients. The most famous hemophilia in Russia - it Tsarevich Alexei, son of Alexandra and Tsar Nicholas II. As you know, the disease got to the family of the Russian Emperor from his wife's grandmother, Queen Victoria. On the example of the family often study the transmission of the disease by the genealogical line.

Causes

Causes Hemophilia sufficiently studied. Found characteristic changes of the gene on the X chromosome. It was found that this section is responsible for the production of essential clotting factors, specific protein compounds.

Hemophilia gene does not occur in the Y-chromosome. This means that it gets to the fetus from the mother's body. An important feature is the possibility of clinical manifestations only in males. Hereditary disease transmission mechanism is called "adhesion" in the family with the floor. Similarly, the transmitted color blindness (loss of color discrimination function), the absence of sweat glands. On the question of whether, in any generation, there was a mutation of a gene, scientists have tried to answer, having surveyed the mothers of boys with hemophilia.

It was found that 15 to 25% of mothers required X-chromosome damage were not. It tells about the origin of the primary mutations (sporadic cases) in the formation of the embryo and is an opportunity to hemophilia disease without family history. In subsequent generations, the disease will be transmitted as a family.

Specific reason for the child's genotype changes have been identified.

Classification

Haemophilia occurs due to changes of the gene on chromosome X. There are three types of hemophilia (A, B, C).

hemophilia A recessive mutation in the X-chromosome causes insufficiency in blood protein required - so-called Factor VIII (antihemophilic globulin). This is considered a classic hemophilia, it occurs most often in the 80-85%
hemophilia B recessive mutation in the X-chromosome - lack of plasma factor IX (Christmas). Disrupted education secondary coagulation stopper.
haemophilia C autosomal recessive or dominant (with incomplete penetrance) type of inheritance, that is, occurs in both men and women) - insufficient blood factor the XI, known mainly in Ashkenazi Jews. Currently, hemophilia C is excluded from classification as its clinical manifestations are very different from A and B.

Hemophilia is of three forms, depending on the severity of the disease:

easy bleeding occur only after the medical intervention, associated with carrying out a surgical operation, or as a result of his injuries.
moderate Clinical symptoms associated with hemophilia, may appear at an early age. For such a shape characteristic of bleeding resulting from trauma, the appearance of extensive hematoma.
Weight signs of the disease appear in the first months of a child's life during the teething, during active movement of the child in crawling, walking.

Alert parents must often appear respiratory tract bleeding in children. The emergence of large hematomas in the fall and insignificant injuries are also the symptoms of anxiety. Such hematomas usually increase in size, swell, bruise when you touch this child is experiencing pain. Hematomas disappear for a long time - an average of two months.

Hemophilia in children under 3 years of age may take the form of occurrence of hemarthrosis. Most often, in this case, suffer large joints - the hip, knee, elbow, ankle, shoulder, wrist. Intraarticular bleeding accompanied by a strong pain, movement disorders of the joints, swelling them, increase the child's body temperature. All these signs of hemophilia should attract the attention of parents.

Hemophilia men

Hemophilia in men does not have any distinctive features in comparison with the course of the disease in children and women. Moreover, since the sick hemophilia overwhelmingly men, all features of the pathology studied it in relation to the stronger sex.

Hemophilia women

Hemophilia in women is virtually casuistry, because this should be an incredible coincidence. Currently, in the world in the history of recorded only 60 cases of haemophilia in women.

So, hemophilia in women can only be the case if the marriage will become a father with hemophilia and the mother - the carrier of the disease gene. The probability of the birth of his daughter with hemophilia from such a union is very low, but still there. Therefore, if the fetus survives, a girl with hemophilia.

The second version of the appearance of hemophilia in women - a gene mutation that occurred after she was born, as a result of which there was a deficit of coagulation factors. It is this mutation occurred in Queen Victoria, which appeared hemophilia is not inherited from the parents, and de new.

Women suffering from hemophilia have the same symptoms as men, so sexually course of the disease the same way.

Symptoms of hemophilia

Hemophilia Clinic - is the formation of hemorrhages in various organs and tissues. bleeding Type - gematomny, it means that the hemorrhage have a high volume, painful and have delayed the character.

Hemorrhage may be formed after 1-4 hours after the traumatic impact. First react vessels (spasm), and platelets (blood clotting cells). The vessels and blood cells do not suffer from hemophilia, their function is not impaired, so the bleeding will stop at the beginning. But then, when it comes to all of thrombus formation of a dense and final stop bleeding, comes into the process defective plasma link of blood coagulation (plasma contains defective clotting factors) and bleeding resumed.

Thus formed all of the following pathological conditions inherent in hemophilia.

Hematomas of different localization

The most common (up to 85-100% ill) manifestation of hemophilia in children are hematoma of soft tissues, arising spontaneously or with little impact. The strength of impact and size of subsequent hematoma often incomparable sight for a stranger. Hematomas in tissues can be complicated by suppuration and compression of adjacent tissue.

Hematomas can occur in the skin, muscles, spread to the subcutaneous fat.

hematuria

Hematuria - is a discharge of blood in the urine, a formidable symptom indicates a violation of kidney function or damage to the ureter, bladder and urethra (the urethra). If there is a propensity to stone formation, it must be monitored regularly by an urologist in order to prevent the formation of stones and trauma of mucous.

Hematuria is more common in children older than 5 years. Precipitating factor may be trauma and lumbar region, bruises that will not cause damage to healthy child, there could be fatal.

hemarthrosises

Hemarthrosises - is bleeding into joints, which are more common in patients with hemophilia children 1 to 8 years. Mainly affects large joints, especially the knee and elbow, hip less shoulder.

  • Acute hemarthrosis - this is the first state emerged with a vibrant clinic.
  • Recurrent hemarthrosis - a frequent, repeated bleeding into the same joint.

The frequency and localization of bleeding in the joints depending on the severity and type of hemophilia exercise:

  • In fast running and jumping hematoma can be formed symmetrical in knee charters.
  • At the drop of a party - hemarthrosis on the corresponding side.
  • At a load on the belt of the upper extremities (lifting, hanging, push-ups, and other types of activity, associated with operating arms and shoulders) - frequent hemorrhages in the elbow and shoulder joints, small joints brushes. The affected joint swells, there is swelling, pain on palpation and movement.

Hemarthrosis without treatment, especially recurrent, suppuration can be complicated by the contents of the joint capsule, and also Organization (degeneration in scar tissue) and the formation of ankylosis (stiff fixed joint).

hemorrhagic rash

Hemorrhagic rash - a rash of varying size and intensity occurring on the skin spontaneously or by mechanical action. Often, the impact is minimal, e.g., blood pressure measurements or traces of gum on the clothes and underwear.

Depending on severity of the disease eruption may take place independently in compliance with gentle treatment and the absence of traumatic and can propagate and become soft tissues hematoma.

Increased bleeding in interventions

For children with hemophilia are dangerous any foreign invasive intervention. Invasive interventions - the ones where you want to puncture, cut, or any other violation of the integrity of tissues: an injection (intramuscular, intra- and subcutaneous, intraarticular, in rare cases), the operations extractions holding allergoproby scarification and even blood sampling for analysis of finger.

Hematencephalon

Brain hemorrhage or hemorrhagic stroke - it is a serious condition, with unfavorable prognosis, sometimes is the first manifestation of hemophilia in early childhood, especially in the presence of head trauma (fall from the crib, and so Further). Disturbed coordination of movements, characterized by paralysis and paresis (incomplete paralysis, when a limb It is moving, but very slowly and uncoordinated), may be in breach of spontaneous breathing, swallowing, development of coma.

Gastrointestinal bleeding

In severe cases, hemoglobin and severe deficiency of coagulation factors (often with combined deficiency of factors VIII and IX), blood traces can be seen already at the first post regurgitation feeding the baby. Excessive solid food, children swallowing small objects (especially those with sharp edges or protrusions) are able to injure the mucous membrane of the gastrointestinal tract.

Generally, if in the vomit or fresh blood regurgitation is detected, then the fault must be sought on the esophageal mucosa. If vomitus have the form "coffee ground", the source of bleeding in the stomach, blood could react with hydrochloric acid and the hydrochloric acid formed hematin, which has a distinctive appearance.

When the source of bleeding in the stomach may be observed also the presence of the black, usually liquid, tarry stool, which is called "melena". In the presence of fresh blood in the stool of the child may be suspected bleeding of the lower intestine - rectum and sigmoid colon.

Combined clinical syndromes

Genes encoding the development of color blindness and hemophilia are located on the X chromosome at a very close distance, so there are cases their joint inheritance. At the birth of her daughter, the disease does not develop into a clinical form, but in 50% of cases of child becomes carrier of the abnormal gene.

A boy born in wedlock male color blind and healthy women, 50% is likely to be color-blind, but if Mother bearer defective gene and father ill (color blindness or color blindness with hemophilia), the birth of sick boy It is 75%.

Diagnostics

In the diagnosis of the disease must involve specialists in different fields: in the maternity ward neonatologists, pediatricians, internists, hematologists, geneticists. When the vague symptoms or complications involved consultation gastroenterology, neurology, orthopedics, surgery, ENT doctors and other professionals.

Signs identified in the newborn, should be confirmed by laboratory methods clotting studies.

Altered coagulation parameters define:

  • and recalcification clotting time;
  • thrombin time;
  • activated partial thromboplastin time (APTT);
  • are conducted specific tests for thrombin potential, the prothrombin time.

Diagnosis involves the study of:

  • thromboelastogram;
  • carrying out a genetic analysis on the level of D-dimer.

Diagnostic value has decline rates up to half the norm, and more.

Hemarthrosises necessarily examined by radiography. Hematoma with suspected retroperitoneal localization or into parenchymal organs require ultrasound. To identify diseases and injuries of the kidneys make urine and ultrasound analysis.

hemophilia treatment

A group of geneticists cured laboratory mice by gene therapy of hemophilia in the application. Scientists have used treatment for adeno-associated virus (AAV).

The principle of treatment of hemophilia consists in cutting the mutated DNA sequence using enzyme carried by the AAV, and then insert it in place of a healthy gene already second virus AAV. coagulation factor IX encoded F9 gene. If the correct sequence of the F9, the clotting factor begins to be produced in the liver, both in healthy individuals.

After gene therapy in mice blood factor levels increased to normal. For 8 months, there were no side effects.

Treatment is carried out at the time of bleeding:

  1. hemophilia A - a transfusion of fresh plasma, antigemofiliynaya plasma, cryoprecipitate;
  2. hemophilia B - donor fresh frozen plasma, clotting factor concentrate;
  3. Hemophilia C - fresh frozen plasma dry.

Further, it is symptomatic therapy.

prevention

Reasons for hemophilia such that they avoid any measures will not work. Therefore, preventive measures are to visit a woman during pregnancy Medical Genetic Center to determine hemophilia gene on the X chromosome.

If the diagnosis has been made, it is necessary to find out what kind of disease is to know how to behave:

  1. It is imperative to take the dispensary registration, maintain a healthy lifestyle, avoid physical exertion and injury.
  2. The positive effects on the body can have a swim, exercise therapy.

On dispensary registration put in childhood. A child with this diagnosis gets exemption from immunizations and physical education because of the risk of injury. But physical activity in the patient's life should not be absent. They are necessary for normal functioning of the body. Any special dietary requirements a child with hemophilia, no.

For colds should not be given aspirin because it thins the blood and can cause bleeding. Nor can we put the banks, as they can cause bleeding in the lungs. You can use a decoction of oregano and lagohilusa. relatives of the patient should also be aware that such hemophilia, trained to provide medical care when a bleeding. Some patients every three months prescribed injection concentrate clotting factor.

Society hemophiliacs

In many countries, particularly in Russia, created a special society for people with hemophilia. These organizations unite people with hemophilia, their families, medical specialists, scientists studying the pathology and simply those who want to provide any assistance to hemophiliacs. On the Internet, there are sites of Community, where anyone can find a detailed information about what is hemophilia, familiarize yourself with the legal materials on the subject, communicate at a forum with people who suffer from this disease, share their experiences, ask for advice, if necessary - to get moral support.

In addition, websites are usually hosted by reference to the domestic and foreign resources - funds, organizations, information websites - with similar themes, giving the visitor a comprehensive overview of the problem of hemophilia or meet people suffering from this disorder, living in his region. The creators of these communities organize special conferences, "school" for people, all kinds of social activities, which can take part every person with haemophilia.

Therefore, if you, your relative or friend suffering from hemophilia, we recommend you become a member of such a society: there you probably will find support and help in the fight against this serious disease.

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