A genetic disorder is a condition in which there is a change in the properties and components in the gene, causing 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 defects or abnormalities, such as dextrocardia and biliary atresia, as well as mental (congenital or congenital abnormalities), 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 an unhealthy lifestyle.
Variety of Genetic Disorders
The following are some genetic disorders that we hear quite often:
- Color blind
There are two main types of color blindness. The first type is partial color blindness, which has difficulty distinguishing between only 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 that then affects the development of red blood cells. The red blood cells of people with this disease have an abnormal shape, causing them to not live long like healthy blood cells in general.
Sickle cell disease can be problematic, because it allows the blood cells to get stuck in the blood vessels. Children with this condition from birth can be anemic, susceptible to infection, and sick in several parts of the body. Even so, there are also sufferers who experience only a few symptoms and can live a normal life.
- hemophiliaHemophilia is a group of blood disorders that are hereditary. 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 blood to not clot normally, so that when the sufferer is injured or injured, the bleeding will last longer.
- Klinefelter syndrome
It is a genetic disorder that occurs only in males. Patients with Klinefelter syndrome have symptoms in the form of a small penis and testicles, little hair growth on the body, large breasts, a tall body and disproportionately shaped body.
Another characteristic of this genetic disorder is a lack of the hormone testosterone and infertility. In addition to this syndrome, there is also another syndrome that also only occurs in men, namely Jacob's syndrome.
- Down syndrome (Down syndrome)
Down syndrome occurs due to the presence of excess genetic material in children, causing the child's physical and mental development to be hampered.
Normally, a person gets 23 chromosomes from the father and 23 chromosomes from the mother for a total of 46 chromosomes. In Down's syndrome, there is a genetic disorder in which the number of chromosomes 21 increases, so that the total number of chromosomes obtained by the child is 47 chromosomes.
This condition cannot be prevented because it is a genetic disorder, but it can be detected early before the child is born. The condition of children with Down syndrome can be different from one another. Some children can live fairly healthy lives, while others have health problems, such as heart or muscle disorders.
In addition to some of the diseases above, genetic disorders can also cause bone diseases, such as osteogenesis imperfecta and fibrodysplasia ossificans progressiva (FOP); on the skin, for example Harlequin ichthyosis;or other syndromes, such as cri du chat syndrome, Moebius syndrome, and patau syndrome (trisomy 13).
Most medical conditions caused by genetic disorders cannot be prevented. However, some can be detected in the womb through chromosomal examination or DNA testing, so that parents can anticipate appropriate medical treatment to improve the child's quality of life after birth. Therefore, it is important for pregnant women to regularly check their pregnancy with a gynecologist to detect early genetic abnormalities in the fetus.