Mr. emofiliya: what is it?
How is the chromosome solitaire of hemophilia? As you know, our body is represented by a host of different cells. The basis of the cell – its core – determines the individual development of each person. The storehouse of this hereditary information in the nucleus is paired filamentary structures – chromosomes.
What is the most obvious personal characteristic of an individual? Correctly, his sex, which is determined by a specific pair of chromosomes, denoted by the letters X and Y. Female cells contain an XX-chromosome pair, male – XY. Each parent sends his future child one chromosome from this pair, whereby the “gender solitaire” that determines the sex of the baby is formed. Thus, by a pair of simple mathematical pairs, four possible combinations of parental chromosomes are obtained,
The structural unit of the chromosome is the gene. The gene composition of the X chromosome, in addition to determining the sex of a person, is also responsible for the formation of coagulation factors VIII, IX, XI.
Background: clotting factors of blood – a group of substances, mainly proteins contained in blood plasma and in platelets and providing blood clotting.
By inheriting a sex chromosome with defective genes, the hemophilic also acquires problems with clotting factors, which in turn is fraught with heavy bleeding.
The probability of hemophilia is much higher in males; in women, even if they have a single chromosome with hemophilic genes, the second X chromosome will be able to provide the required amount of coagulation factors. In men, there is only one X chromosome, and if genetic defects are found in it, then write is gone: he will suffer from prolonged bleeding. since his second sexual Y-chromosome is not involved in the production of coagulation factors.
In a hemophilic father all daughters will be carriers of this disease. At sons (under condition of a healthy mother) any problems with coagulability of a blood will not be. If the blind fate reduces the male hemophilic with the woman who is the carrier of this disease (with one normal X-chromosome and one defective), then hemophilia can manifest not only in their potential son, but also in the daughter. Most often, this situation is characteristic of closely related marriages.
Types of hemophilia
Hemophilia differentiates depending on the absence (or lack of activity) of a particular coagulation factor:
- in the absence of the VIII coagulation factor called antihemophilic globulin, hemophilia A develops : the most common type of hemophilia;
- in the absence of IX factor of blood coagulation (alternative name – factor Kristmasa) hemophilia B develops ;
- in the absence of the XI coagulation factor, the rarest species of this hereditary disease, hemophilia C, develops .
All these types of hemophilia have similar symptoms, but their treatment contains some differences, so it is important to diagnose a particular type of disease.
Signs of hemophilia
The main symptoms and signs of hemophilia include:
- persistent persistent bleeding, beginning an hour or two after a cut, tooth extraction or some other injury. There are also bleedings not related to mechanical damage (spontaneous);
- extensive bruises even after minor injuries;
- frequent bleeding from the nose and gums (cleaning of teeth turns into a bloody spectacle);
- a serious consequence of hemophilia are intra-articular bleeding: getting into the joint of the blood is accompanied by unbearable pain, swelling and a violation of mobility of the joint. Any subsequent intraarticular bleeding can deform it and cause irreversible impairment of mobility;
- blood in the “expendable” substances – urine and feces;
Hemorrhage in the brain and spinal cord, the probability of which is incomparably higher in hemophilia than in normal, can lead to a lethal outcome.
Diagnosis of hemophilia
Like any hereditary disease, hemophilia requires careful study of the genealogical tree for the presence of the genus (in particular – in the immediate family) of the disease. In particular, attention is drawn to the presence on the maternal line of men with increased bleeding.
Since hemophilia is directly related to blood, the blood test is also extremely important in its diagnosis. The blood sample taken from the patient is determined by the time of blood coagulation. Delayed blood clotting can indicate hemophilia. The number of clotting factors and their concentration are also determined. A specific type of hemophilia is determined by a thromboplastin generation test or by DNA diagnostics.
Treatment of hemophilia
During the exacerbation of bleeding, blood transfusion is prescribed (hemotherapy), and depending on the type of hemophilia the treatment will differ. Thus, hemophilia A uses purified concentrate of the VIII factor of blood clotting (trade names – Cryoprecipitate, Agemphil A, Beriat, Gemotin, Octavi, Fundi ) or transfusion of fresh or antihemophilic plasma. In hemophilia B and C, plasma, native plasma concentrate and prothrombin complex, including a combination of blood coagulation factors II, VII, IX and X (trade names – Conine 80, Prothromplex 600 ) are administered .
In the case of necessity of surgical intervention, first of all, fill the contents of the missing factor of blood clotting, and only after that the operation is performed. This is especially true with intra-articular bleeding, when puncture of the joint with the removal of blood is carried out only after the general hemotherapy. After the operation, physiotherapy (mud baths, water procedures and curative gymnastics ) is used in the framework of auxiliary regenerative therapy .
When hemophilia should be especially scrupulous to watch out for injuries, surgical interventions to produce only for vital indications, conducting pre-training before that.