Hemophilia: symptoms, treatment, causes, diagnosis

What it is? Hemophilia is called a pathology, in which an inadequate level of specific proteins regulating blood clotting is determined.

The disease is inherited in a special way - with a gene linked to the sex chromosome X. Pathology is usually seen from early childhood.

The disease is incurable, it is possible only for a while to replace the deficiency of coagulation factors with similar proteins transfused from another person.

Causes of hemophilia

The cause of the disease is the defect of the gene responsible for the formation of clotting factors, which is closely related to the sex chromosome. Why such a mutation occurs is not known, but in 70% of cases it already has a long history in each particular generation.

A healthy person can develop a spontaneous mutation of the gene, which also begins to be inherited. As a result, normal blood clotting is impaired. To understand how this happens, let's look briefly at the mechanism of blood clotting.

Injuries to any external and internal organ damage one or more vessels. The injured vascular wall produces specific substances that "cause" the platelets themselves and contribute to their attachment in a particular damaged area.

Platelets( a type of blood cell in the blood), glued to the damaged area, secrete their chemicals, thereby triggering the blood coagulation system.

The whole chain reaction from various coagulation proteins is then normal, as a result of which the thrombus tightly adheres to the damaged vessel, and the bleeding stops. If at least one protein in this cascade is not enough, blood coagulation is already becoming very difficult.

Depending on the deficiency of clotting factors, these types of hemophilia are distinguished:

1. 1) Hemophilia A - deficiency of protein called "antihemophilic globulin" develops;
   
2. 2) Hemophilia B - the blood lacks IX factor of coagulation.

The disease is transmitted from a carrier mother of a defective( defective) gene, but only sons are always affected. This is because the damaged gene is recessive( that is, it can only appear when it does not "confront" a similar but not mutated gene), while it is associated with the female( X) chromosome.

There are two X-chromosome girls, and in order for the disease to manifest itself, it is necessary that both these chromosomes carry a defective gene. Theoretically, this is possible if the parents of the girl are a father, a hemophilic patient and a defective mother or sick with this disease. In practice, if two defective X-chromosomes fall into the set of fetal genes, then such a child will die before birth - he will be killed by his own immunity of a woman. This will happen on the 4th week of pregnancy, when the embryo begins to form a blood system.

In men, hemophilia manifests, because the defective gene located on the X chromosome, there is nothing to oppose - the second sex chromosome in it - Igrok, there is no place for this gene.

Symptoms of hemophilia

The first signs of hemophilia can be seen even in a newborn child, when blood does not stop for a long time from a cut cord, with an awkward movement or a very slight trauma, hematomas develop and the postpartum cephalohematoma develops.

Further bleeding occurs when teething, with a bite of the tongue, cheeks, lips;The blood does not stop for a long time during manipulations and surgical interventions.

In infants, these symptoms of hemophilia may not be very pronounced if they are fed by breast milk( it contains an enzyme that helps coagulation).

After a year develop:

1. 1) Nasal bleeding;
   
2. 2) Hemorrhages in large joints: they increase in volume, become painful, red, the temperature rises above them. This may be accompanied by an increase in the temperature of the entire body;
   
3. 3) Blood does not stop after injections, surgeries and injuries, and it does not develop immediately, but several hours after the traumatic factor( even after 12 hours);
   
4. 4) Gastrointestinal bleeding may develop, blood in the urine may be detected;
   
5. 5) Bruises and bruises that do not pass;while hematomas tend to spread inside tissues, causing complications.

Diagnosis of hemophilia

Blood coagulation is detected with the help of such a study as a coagulogram. To do this, take 3-5 ml of blood from the vein. In the coagulogram, the change in such indicators is determined:

• increase in APTT;
  
• elongation of recalcification time;
  
• INR more than 3;
  
• decreases prothrombin index;
  
• increases thrombin time.

In addition, an increase in clotting time is found and the duration of bleeding increases. This is determined by the fact how quickly the blood coagulates after a finger has been pierced by a scarifier - either by itself, or in a test tube. The number of platelets is normal.

To determine that this is hemophilia and to know its type will help determine the level of factors VIII and IX.To diagnose complications,

• urine tests are performed;
  
• radiography of joints;
  
• ultrasound of the organs of the stomach and kidneys;
  
• computed tomography of the brain with suspicions of a hemorrhage into its substance or under its membranes.

Treatment of hemophilia

Hemophilia, the basis of treatment is to introduce those clotting factors obtained by taking blood from donors, which the patient lacks. They are injected as prophylactically, with severe form of hemophilia, and "on demand", with the development of bleeding. When hemophilia A is introduced cryoprecipitate or factor VIII, with hemophilia B - a factor IX solution.

All manipulations and planned operations are performed after preliminary determination of clotting factors and at their parallel with manipulation of administration. If urgent surgery is necessary or bleeding is developed, freshly frozen plasma, prothrombin complex, erythrocyte mass is also introduced. With renal bleeding, the drug "Dicinon" is administered.

In cases of hemorrhages in the joint, a gypsum lone is applied to it, glucocorticoids are introduced into the vein, "Etamsilat";electrophoresis with haemostatic drugs( "Aminocaproic acid") on the joint area, after 10 days go to physiotherapy with resorbants( "Lidase")

The diet for hemophilia should contain foods with a high content of vitamins A, K, D, C.

Complications

To complications of hemophilia include:

1. 1) Hemorrhages in the joint are complicated by deforming osteoarthritis, chronic synovitis, contractures, osteoporosis, deformation of bones, which leads to disability even in childhood;
   
2. 2) Hematomas under the skin tend to spread between the muscles, exfoliating them, and also to swim. This can provoke the development of paralysis, muscular atrophy, gangrene;
   
3. 3) Bone fractures from high blood volume pressure;
   
4. 4) Obstruction by blood of the respiratory tract;
   
5. 5) Hemorrhage into the substance of the brain or its membranes;
   
6. 6) Expansion of renal pelvis and ureter;
   
7. 7) Pyelonephritis;
   
8. 8) Intra-abdominal hemorrhage;
   
9. 9) Anemia;
   
10. 10) Infection with viruses of hepatitis, herpes group, HIV with transfusion of blood products;
    
11. 11) The form of hemophilia, in which the transfused blood factors have no effect, the body becomes immune to them.

Prevention

Prevention consists in prenatal genetic counseling for couples. If there is a possibility of the birth of a sick child( female gene carrier and hemophilia patient husband), pregnancy is not recommended. If the pregnancy has occurred, then at the age of 14-16 the sex of the fetus is determined, and if the child turns out to be a boy, it is recommended to interrupt the pregnancy.

If the pregnancy occurred in a healthy woman whose spouse is sick with hemophilia, then it is also recommended to determine the sex of the baby and terminate the pregnancy if it is a girl( she will bear the defective gene).If a boy with a high risk for hemophilia develops, then in the first 6 months of his life a coagulogram is necessarily examined. If hemophilia is detected, vaccination against hepatitis B is recommended.

With the hemophilia

• , children begin to learn how to walk in soft knee pads;
  
• parents of such children should always have a cryoprecipitate house or an IX factor preparation at home;
  
• Children should not be administered intramuscularly, either by mouth or intravenously;
  
• should not take aspirin;
  
• all operations and manipulations are performed only in the hospital;
  
• can not be engaged in physical education;
  
• with you to have a passport of a patient with hemophilia indicating the blood group and Rh factor;
  
• with bleeding is assigned bed rest.

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