Hemostasis is the body system responsible for the normal stop of bleeding, as well as blood coagulation. The proper functioning of hemostasis directly depends on the state of the walls of the vessels, as well as on the number of platelets in the blood, and a number of other factors.
How is this dangerous?
Various mutations of hemostasis genes can lead to all sorts of pathologies in the development of the fetus, which are associated with bleeding disorders. They are considered the cause of chronic inability to bear the fetus, which manifests itself in miscarriages in the later stages or in the form of other negative consequences. For this reason, it is important to undergo a timely examination.
When do patients require hemostasis gene mutations?
The process of mutation (polymorphism) is quite common, and therefore it is necessary to take tests in several cases.
- When a woman is selected the best option for hormonal contraception, or she is undergoing hormone replacement therapy.
In this situation, the test will provide an opportunity to choose the safest method so as not to harm the woman’s ability to conceive in the future. When else do you need to donate blood for hemostasis gene mutations?
- In the event that the patient turned to the attending physician because of her infertility or chronic inability to bear the fetus.
The presence of mutations in the hemostasis genes is usually indicated by repeated unsuccessful attempts at in vitro fertilization along with late toxicosis, fetal development delays and other symptoms. Even one of the listed symptoms will be enough to conduct an appropriate examination.
- The examination is also prescribed in the case when a woman had cases of thrombosis under the age of fifty.
This is especially true for patients who smoke, among close relatives of whom there may have been cases of deep vein thrombosis, as well as strokes and myocardial infarction.
What do doctors recommend?
Doctors advise to pass all the necessary tests for mutations in the hemostasis genes immediately before a planned surgical operation, for example, transplantation or endoscopic prosthetics and so on. The pathology of blood coagulation as a result of serious intervention can cause formidable complications up to the death of the patient. In addition, the examination should be carried out if the young man has hearing impairment, which cannot be determined. All of the above situations are the main cases when you may need to check for diseases.
Different mutations of hemostasis genes can also remain invisible to patients for many years, as they can occur without any symptoms, and occur suddenly. True, at a stressful moment for the body, for example, during pregnancy or against the background of surgical intervention, clotting disorders can be detected that can lead to fetal death, as well as other dangerous consequences.
The main reasons for the formation of mutations
Mutations in the genes of the hemostasis system are congenital, which are transmitted downward through generations. In view of this danger, a check is required, especially if the appearance of thrombosis and blood clotting has been noticed among close relatives. True, there are acquired mutations that arise under the influence of various factors.
One of the main reasons is the so-called antiphospholipid syndrome, which is an autoimmune disease, against which antibodies are produced in the human body against its own phospholipids. Autoimmune pathologies, as a rule, occur infrequently, however, hemostatic mutations are able to form for other reasons.
These are regular stressful situations that reduce the body's resistance to various infections. In addition, during constant overvoltage various functions in the activity of the body may be disturbed.
The presence of cancer or endocrine diseases. In part, these are related to the environmental situation. It has already been proven that in some areas, cancerous tumors along with all kinds of gene mutations are much more common due to environmental pollution due to human activities.
Acceptance of pharmaceutical preparations, especially hormonal ones. The examination must be carried out before the use of hormonal contraceptives in order to avoid their negative and rather dangerous effects on the human body.
Additional risk group
There are a lot of factors influencing the occurrence of hemostasis gene mutations. In an additional risk group, among other things, there may be people suffering from severe obesity, against the background of which some types of injuries can lead to the appearance of gene mutations. At the moment, it is not known exactly on the basis of what principle gene mutations arise, although now world medicine has learned to minimize the consequences of this polymorphism. At the first appearance of suspicion, a test is required, and this should be done even at the stage of planning a woman's pregnancy.
The most commonly mutated hemostasis genes
During a visit to the clinic, patients are offered to undergo an extensive examination. Thus, a direct analysis of mutations of hemostatic genes is carried out in relation to:
- The prothrombin gene. Mutations of this species are expressed in the form of congenital thrombophilia, due to which vascular thrombosis is likely, and, in addition, the risk of heart attacks and strokes increases significantly. The use of contraceptive medicinal products can several times increase the risk of blood clots. Among pregnant women, a mutation of this gene is expressed by the inability to bear the fetus, and placental abruption and delayed development of the embryo are also likely.
- The next type is the Leiden mutation, which is manifested by changes in the gene of the fifth factor. Symptoms in this case are similar to the previous option. Also, for this type of mutation, fetal death is characteristic, usually during the second, maximum third trimester.
- Mutations of fibrinogen genes are manifested in the form of deep vein thrombosis, as well as thromboembolism. In this case, the fetal miscarriage is likely and, as a result, miscarriages in the early and later stages.
- Mutations of folic acid metabolism genes can lead to malformations of the nervous system in the fetus. Pathologies of blood vessels, heart and urogenital apparatus are not excluded. A blood test for mutations in the hemostasis genes must be performed for all women who are planning a pregnancy, especially those who are at risk.
- In the event that mutations occur in the folic acid metabolism gene, this leads to disruption of the enzyme methylenetetrahydrofolate reductase, which converts the substance homocysteine to methionine. In situations where doctors observe a similar process in patients, the risk of atherosclerosis almost doubles, and in addition, the possibility of having a baby with serious deviations of the nervous system increases. In such children, plus everything else, anencephaly can be observed along with deep mental retardation and other types of lesions.
- In the case of the glycoprotein gene, mutations are accompanied by thrombosis, as well as thromboembolism, which significantly increases the risk of stroke and myocardial infarction at a young age. Mutational changes can be inherited, for this reason this factor should be taken into account during pregnancy planning, especially if there have been previous miscarriages.
- Mutations in the gene that is responsible for the plasminogen activator inhibitor can cause miscarriages in both early and later stages. In addition, it causes gestosis, placental abruption and other negative consequences. The timely establishment of such a mutation makes it possible to reduce the risk of their manifestation during pregnancy and childbirth.
There are also some genes whose condition is subject to analysis during the study. Depending on the results, the couple will be able to decide whether to plan a child at all, because in the presence of probable pathologies, the risk of complications is great. Such a decision is always difficult, but it is necessary to soberly assess the level of risk, and in addition, take a deliberate and balanced decision.
Now an analysis of mutations of hemostasis genes in Invitro can be done. It is fast and inexpensive.
How is the study of hemostasis genes?
The performance of the hemostatic system can be analyzed by several methods. Capillary or venous blood is used as the material for analysis, and samples must be taken on an empty stomach. It will be best to specify the laboratory work schedule in advance, while refraining from eating spicy or salty foods the day before. This is required so that there is no distortion of the test results. How else can an analysis be made for mutations in hemostatic genes?
Another way to obtain materials
Today, there is another way to obtain materials for analysis. Thus, in some clinics, a buccal swab is used, which allows you to get epithelial cells located on the back of the cheeks. A similar method is an absolutely painless and fairly quick option. Such a measure is an opportunity to conduct an examination without undue discomfort, especially for those who are afraid of injections. Upon completion of laboratory tests, doctors appoint a consultation with a hematologist, who will have to explain in detail and comment on the results. This analysis is carried out by polymerase chain reaction, the determination of the result becomes possible thanks to control samples.
Hemostasis gene mutation and pregnancy
In the framework of laboratory research, the fact that during pregnancy, as a rule, the level of blood coagulability increases slightly, which is not a pathology at all, is taken into account. True, the presence of mutations can enhance this process, and thrombosis that has begun can cause great harm to the mother and the unborn child. What does a hemostasis gene mutation test reveal?
Genetics Definition
In order to establish whether this is inherited, it is recommended to pass tests for the determination of genetics. Such an expensive procedure will help to determine the likelihood of possible deviations in the hemostatic system in future offspring. This type of test is prescribed for patients in whom there have already been cases of thrombosis. It’s worth it to sound the alarm, since a mutation that is not clarified in time can lead to the death of the fetus or to serious defects in its mental and physical development.
The decoding of the mutation of hemostasis genes should be carried out by a highly qualified specialist.
Is it possible to carry out correction of violations?
Medicine answers this question positively, because thanks to modern methods it is possible to combat increased blood coagulability, as well as to prevent placental insufficiency. To do this, folic acid is prescribed, which prevents the formation of blood clots, and doctors also prescribe special multivitamins and other necessary drugs. In the event that medical recommendations are strictly followed, the chance of bearing a healthy baby along with successful childbirth without complications increases to ninety-five percent.
Conclusion
The establishment of certain violations in the work of the hemostatic system is not considered a sentence for the patient. There are special medicines that can prevent the occurrence of thrombosis and minimize the effects of various chromosomal abnormalities in the unborn child. Even if the woman has failed to bear the fetus several times, after the start of competent treatment there is a chance to significantly increase the chances of success. Thus, the successes of laboratory research methods allow today to obtain the most reliable information about the correct set of chromosomes, as well as about possible deviations.