Variety of Genetic Abnormalities that cannot be prevented

Genetic disorder is a condition in which there are changes in the nature and components in genes that cause disease. This condition can be caused by new mutations in DNA, or abnormalities in genes inherited from parents. Genetic disorders can cause a variety of conditions, ranging from physical or mental disabilities or disorders (congenital or congenital disorders), to certain diseases such as cancer. Even so, not all cancers are caused by genetic disorders, some can also occur due to environmental factors and bad lifestyle.

Variety of Genetic Abnormalities

The following are some genetic disorders that we hear quite often:

• Color blind

One genetic disorder that may be familiar is color blindness. Normally, the human eye has three types of cone cells that react to different wavelengths of light. To be able to see colors well, the pigments from these three types of cone cells must work well. If not, there will be color blindness. There are two main types of color blindness. The first type is partial (partial) color blindness which is difficult to distinguish between blue and yellow, or only green and red. While the second type is total color blindness, or also called achromatopsia.

• Sickle cell disease

This genetic disorder is caused by a gene error which then affects the development of red blood cells. Red blood cells sufferers of this disease have an unusual shape, thus causing these blood cells to not be able to live long as healthy blood cells in general. Sickle cell disease can cause problems, because it allows blood cells to be trapped in blood vessels. Children with this condition from birth can experience anemia, are vulnerable to infections, and get sick in some parts of the body. Even so, there are also sufferers who experience only a few symptoms and can live normally.

• Hemophilia

Hemophilia is a group of blood disorders that occur from generation to generation. This genetic disorder occurs because of an error in one of the genes on the X chromosome, which determines how the body makes blood clotting factors. This condition causes the blood to not be able to clot normally, so that when the sufferer experiences an injury or injury, the bleeding that occurs will be longer.

• Klinefelter's syndrome

Is a genetic disorder that occurs only in men. People with Klinefelter's syndrome have symptoms in the form of a small penis and testicles, hair only grows slightly on the body, has large breasts, height and less proportional. Other characteristics of this genetic disorder are the lack of testosterone and infertility. Apart from this syndrome, there are also other syndromes that also only occur in men, namely Jacob's syndrome.

• Down syndrome (Down syndrome)

Down's syndrome occurs due to the presence of excess genetic material in children, thus causing the child's physical and mental development to be hampered. Normally, a person gets 23 chromosomes from a father and 23 chromosomes from a mother with a total of 46 chromosomes. In Down syndrome, genetic disorders occur where the number of chromosomes 21 increases, so the total chromosomes obtained by children are 47 chromosomes. This condition cannot be prevented because it is a genetic disorder, but can be detected earlier before the child is born. The condition of children with Down syndrome can differ from one another. Some children can live reasonably healthy, while some have health problems, such as heart or muscle disorders.

Most medical conditions that are caused by genetic disorders cannot be prevented. But there can be detected since in the womb through chromosome examination, so parents can anticipate appropriate medical treatment to improve the quality of life of the child after birth. Therefore, it is important for pregnant women to routinely go to a gynecologist for pregnancy to detect early genetic abnormalities in the fetus.