Hemophilia is a hereditary blood pathology characterized by an increased tendency to bleeding and slow coagulation of a biological fluid.
The factors responsible for blood coagulation are 8 and 9. When mutations of the genes responsible for their coding, hemophilia develops. The blood does not clot at the desired speed, so a person has intense bleeding even after minor injuries. In addition, patients fix hemorrhage or hematomas in certain parts of the body for no apparent reason.
It is noteworthy that only boys are affected. Girls, even being carriers of a mutated gene, do not suffer from hemophilia. The life expectancy of patients with untreated disease is 10 - 15 years. If the patient passes the course of therapy promptly and completely, then he will have a chance to live to a ripe old age.
What it is?
Hemophilia is a pathology from the group of coagulopathy, in which there is a lack of coagulation factors of blood plasma. As a result, the person increases the tendency to hemorrhages.
Hemophilia A and B are found in 1 out of 10,000 to 50,000 cases. Most often boys suffer from the disease in early childhood, so it is a pressing problem in modern pediatrics and pediatric hematology. This is not the only form of hemorrhagic diathesis. Many children are diagnosed with hemorrhagic telangiectasia, thrombocytopathy, Glantsman disease, and others.
In modern hematology, the type of absent coagulation factor is that hemophilia is divided into 3 classes:
- Hemophilia A. With such a deviation revealed the absence of antihemophilic globulin - 8 coagulation factors. This is the most common type of disease, the frequency of which is 1 case per 5,000 men.
- Hemophilia B develops in the absence or deficiency of Christmas factor (9 factors). In newborn boys, this pathology is diagnosed in 1 out of 30 thousand cases.
- Hemophilia C is the rarest form of the disease, characterized by the absence of 11 coagulation factors. This type of disease affects girls whose mother is the carrier of a mutated gene, and the father is sick with hemophilia. Such a violation occurs in only 5% of cases.
Hemophilia is divided into 3 degrees. According to such a gradation, it happens:
- Heavy Such a diagnosis is made in patients with a missing factor of 1%. Hemorrhagic syndrome makes itself felt in early childhood. In this condition, hemorrhages occur in the joints, muscle tissue, internal organs.
- Medium heavy. The level of plasma factor varies from 1% to 5%. Pathology manifests itself in preschool children, accompanied by moderate severity of hemorrhagic syndrome. Exacerbations occur 2 - 3 times a year.
- Easy The concentration of the factor exceeds 5% in plasma. The disease manifests itself at school age. The intensity of bleeding is low, and they are usually associated with previous injuries or operations.
Hereditary transmission pattern
A newborn baby receives two genes from the mother and father — the dominant (dominant) and the recessive (minor). If he inherits two dominant genes, then in the end he will manifest himself in full (for example, the color of his eyes or hair). The situation is the same with minor genes. If one of the parents gave the child the dominant, and the second - the recessive gene, then in the end the baby will show the first sign. That is, the predominant.
A recessive gene that can exclusively transmit the X chromosome is responsible for the transmission of hemophilia. In order for the female fetus to develop hemophilia, it is necessary that the recessive X chromosomes be transmitted from both the mother and the father. If this happens, the fetus dies already at 4 weeks of its prenatal development, since it is during this period that its own hematopoietic system is formed.
If the mutated gene is located only on the 1 X chromosome, then the child does not show hemophilia due to the suppression of the recessive activity by the dominant gene. Thus, a woman can be a carrier of a mutated gene, but without the risk of hemophilia.
Why do men suffer from the disease?
The hemophilia recessive gene is located on the sexual X chromosome, so its inheritance is closely related to the sex of the child. That is, the boy must inherit immediately 2 X chromosomes containing the mutated gene. But in women there are 2 X chromosomes, in men it is the X and Y chromosomes. Thus, to inherit hemophilia, the boy must receive from his mother two mutated genes present on the X chromosome.
This is not possible if a woman is pregnant with a girl, even with mutated X chromosomes, the disease cannot be transmitted. The fact is that the organism of the fetus, which is on the 4th week of intrauterine development (the period when the unborn child has its own hematopoietic system), cannot bear such a violation - a miscarriage occurs. Therefore, girls can be born with only one mutated X chromosome.
In boys, however, there are two chromosomes - X and Y. The second one does not contain a mutated gene. In such a situation, when the recessive hemophilia gene is on the X chromosome, and the Y chromosome does not have another dominant gene that could suppress it, hemophilia occurs.
Since the discovery of this pathology, only one woman has been known to be ill with her - this is the British Queen Victoria. Her case is also unique in that this pathology manifested itself after birth. It is for this reason that hemophilia is called "Victorian" or "royal" disease.
Probability of hemophilia
The likelihood of hemophilia depends on whether the mutated gene is present in the body of one of the members of the married couple. If no one of the blood relatives of a woman or man has ever encountered this disease, then the spouse's future child, as a rule, is born completely healthy. However, children can manifest this pathology in the event that one of the parents subsequently forms the hemophilia gene, as was the case with the British Queen Victoria.
If a mutated gene is present in a man's body, and his spouse does not have it, then the boys in such a family will be healthy. But girls born in such a family become carriers of the hemophilia gene in 50% of cases. In the future, they will be able to pass it on to their offspring.
Marriage of a man who suffers from hemophilia and a woman who is the carrier of a mutated gene is very unfavorable from the point of view of the birth of healthy children. In such a pair, there is a certain risk of having children with the disease in question:
- the birth of healthy boys - 25%;
- the birth of healthy girls who are not carriers of hemophilia, 0%;
- the birth of a healthy girl who is the carrier of the mutated gene - 25%;
- the birth of a boy with hemophilia - 25%;
- miscarriage during the prenatal development of a female fetus in the presence of 2 hemophilia genes - 25%.
If a woman is the carrier of the hemophilia gene, and her husband is completely healthy, then the probability of having a boy with this disease is 50%. Girls with the same probability, and with such a marriage, will be carriers of the pathological gene.
Symptoms and first signs
The main symptom of hemophilia is bleeding tendency. It can occur regardless of age and time of day. Most often, patients experience nasal bleeding, but blood impurities can also be noted in urine, feces. Even after minor strokes or bruises, hematomas can form in humans.
It is noteworthy that after pulling out a tooth, gingival bleeding may not stop at all for several hours in a row. With the penetration of blood into the articular cavity, its swelling and restriction of mobility are noted.
In children, hemophilia symptoms appear:
- bleeding caused by injections or injectable vaccination;
- hematomas that first have a pinpoint character and then spread through the body (thrombocytopenic purpura);
- stable bleeding from the umbilical cord during the first days after the birth of the baby.
In children of 2-3 years of age, after slight physical exertion, petechiae may appear - small hemorrhages. When a child reaches the age of four, the previously described symptoms are accompanied by:
- hemarthrosis - bruises that can lead to the development of arthropathies, synovitis, chronic contractures;
- gingival bleeding, discharge;
- vomiting with blood;
- frequent nosebleeds;
How to suspect hemophilia in a newborn
It is possible to suspect the presence of hemophilia in a newborn baby by non-stop bleeding from the umbilical cord and bruises on the head and convex parts of the body.
The presence of such a deviation requires immediate treatment for medical care, and donation of blood for research. In parallel with this, a detailed survey of the blood relatives of the child will be carried out to identify genetic susceptibility to hemophilia.
Pathology can be diagnosed, based on the patient's complaints, the collected history and the presence of previously considered symptoms. Special attention is paid to physical examination with palpation of the affected joints. Their deformation and deformation is noted. In this case, the patient complains of the presence of pain in them, and their limited mobility.
Atrophy of the muscles surrounding the joints is fixed, and hematomas and punctate bruises are detected on the body. To confirm the diagnosis is necessary to:
- a blood test for coagulation according to Duke and Lee-White (with a normal duration of bleeding, the coagulation period is 10 minutes or more);
- blood samples to determine the prothrombin index (PTI) and activated partial thromboplastin time;
- test for the quantitative determination of 7, 9 and 11 coagulation factors in serum.
It is also necessary to conduct radiography of the joints and pathological examination of a sample of their tissues.
It is extremely important to differentiate hemophilia from some other conditions and diseases:
- Willebrand disease;
- immune thrombocytopenia;
- hepatic abnormalities;
- aplastic anemia;
- Vacaise disease;
- chronic leukemia;
It is impossible to completely cure the pathology, because it is associated with a gene mutation. However, it is possible to affect blood clotting, so this therapy is called replacement. It involves the introduction into the patient's body of medicines containing substances that his body needs.
Thanks to replacement therapy, it is possible to maintain normal blood clotting, as well as eliminate manifestations of hemorrhagic syndrome. Medicines are selected based on the form of hemophilia, the dose - depending on the degree of its severity.
- For hemophilia type A, blood cryoprecipitate is used based on purified or recombinant factor 8. Fresh citrated donor blood can be used, which has been stored for no more than 24 hours from the time of collection. These funds are intended for intravenous administration. The procedure is carried out twice a day. Particular preference is given to agents based on factor 8. They are used primarily for hemophilia type A. But if there is no possibility to use such drugs, or they are contraindicated for the patient, they are replaced with citrated blood or cryoprecipitate blood.
- For the treatment of hemophilia type B, medications are prescribed on the basis of purified factor 9 concentrates. Also, this form of the disease is treated with prothrombin complex preparations, complex medication PPSB, canned blood or plasma of any shelf life. Such drugs are administered intravenously 1 time per day. The most preferred and frequently used in the treatment of hemophilia type B are medications with factor 9. In exceptional cases, drugs may be prescribed that are used in the treatment of form A. This applies not only to PPSB, but also to canned donated blood.
Replacement therapy for people with hemophilia is performed daily. The course of treatment is lifelong. Medicines are used not only for medical purposes, but also for prophylactic purposes.
In order to prevent the drugs are introduced only when the level of the missing clotting factor reaches 5%. Thanks to preventive therapy, it is possible to prevent the opening of massive bleeding and the formation of hematomas or bruises on the body.
With regard to the therapeutic need for the introduction of such funds, it occurs when a patient has hemarthrosis, hematomas, petechiae and other pronounced symptoms of progressive hemophilia.
Along with replacement therapy, symptomatic therapy is also carried out. It is necessary if there are violations of the activities of other internal organs.
For example, with frequent and intense bleeding, oral administration of aminocaproic acid is recommended:
Tranexamic acid-based drugs, such as Hemotran, Tranexam, Cyclocapron, etc., also have a hemostatic effect. An alternative is Amben or Desmopressin. You can use local means, for example, a hemostatic sponge, thrombin, gelatin, etc.
If there is a hemorrhage in the joints, then the patient should be put in bed and the affected area fixed in a fixed state for 2 to 3 days. During this time cold compresses should be applied to the joint.
In case of volumetric hemorrhages, aspiration (suction) of the blood is performed. After that, the patient is injected with Hydrocortisone by the intra-articular route to eliminate inflammation.
After 2 - 3 days after joint hemorrhage, immobility must be eliminated. To restore the affected area, a light massage of the limb should be performed, as well as bending it, straightening it out and performing circular movements.
If after numerous hemorrhages the joint has lost its mobility, surgical intervention is carried out.
Before the start of preventive measures, it is necessary to undergo a consultation in a medical genetic institution to identify the hemophilia gene in the X chromosome. With this disease, patients should be at the dispensary, strictly observe the daily routine and diet. It is important not to overload the body physically, and to avoid injury.
The patient's body is positively affected by exercises in the gym, exercises with shells, swimming. In order to avoid complications, the patient’s relatives are trained to provide first aid for bleeding. In some cases, people with hemophilia are injected with coagulation factor concentrates. Such manipulations are performed once every three months.
When hemophilia is strictly prohibited to use drugs that thin the blood. These include NSAIDs, antipyretics, anticoagulants and antiplatelet agents.
With the right approach to therapy, the life expectancy of patients with hemophilia will not differ from that in healthy people.But since the drugs used in this case are made from donated blood, there is a certain risk of contracting AIDS or hepatitis.