Hereditary diseases are diseases, the appearance and development of which is associated with complex disorders in the hereditary apparatus of cells transmitted through gametes (reproductive cells). The occurrence of such ailments is caused by disruptions in the processes of storage, sale and transfer of genetic information.
Causes of hereditary diseases
At the heart of the diseases of this group lie the mutations of gene information. They can be detected in the child immediately after birth, but can appear in an adult person after a long time.
The appearance of hereditary diseases can be associated only with three reasons:
- Chromosome disorder. This is the addition of an extra chromosome or the loss of one of the 46.
- Changes in the structure of chromosomes. Disease causes changes in the sexual cells of the parents.
- Gene mutations. Diseases arise due to mutation of both individual genes, and because of the disruption of a complex of genes.
Gene mutations are attributed to hereditary predispositions, but their manifestation depends on the influence of the external environment. That is why the causes of such an inherited disease, as diabetes or hypertension, in addition to mutations, are also malnutrition, prolonged nervous strain, obesity and mental trauma.
Types of hereditary diseases
Classification of such diseases is closely related to the causes of their occurrence. Types of hereditary diseases are:
- genetic diseases - arise as a result of DNA damage at the gene level;
- chromosomal diseases - are associated with a complex anomaly of the number of chromosomes or with their aberrations;
- disease with hereditary predisposition.
Methods for determining hereditary diseases
For qualitative treatment, it is not enough to know what kind of hereditary human diseases are, it is necessary to identify them in time or the probability of their occurrence. To do this, scientists use several methods:
- Genealogical. With the help of studying the genealogy of a person, it is possible to identify features of inheritance of both normal and pathological signs of the organism.
- The twin. Such diagnostics of hereditary diseases is a study of the similarity and differences of twins for revealing the influence of the environment and heredity on the development of various genetic diseases.
- Cytogenetic. Investigation of the structure of chromosomes in patients and healthy people.
- Biochemical method. Observation of the peculiarities of human metabolism .
In addition, almost all women during pregnancy undergo ultrasound. It allows on the basis of the fetus to detect congenital malformations beginning with the first trimester and also to suspect that the child has some hereditary diseases of the nervous system or chromosomal diseases.
Prophylaxis of hereditary diseases
Even more recently, even scientists did not know what the possibilities of treating hereditary diseases. But the study of pathogenesis
A lot of genetic ailments, unfortunately, are not fully understood. Therefore, in modern medicine, great importance is given to the prevention of hereditary diseases.
Methods for preventing the occurrence of such diseases include the planning of childbearing and the abandonment of childbearing in cases of high risk of congenital pathology, the termination of pregnancy with a high probability of fetal disease, and the correction of the manifestation of pathological genotypes.