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Genetic disorder is a condition where there is a change in the nature 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 various conditions, ranging from physical and mental disabilities or 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 unhe althy lifestyles.
Various Genetic Disorders
The following are some genetic disorders that are quite common in society:
1. Color blind
One of the genetic disorders 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 the three types of cone cells must be able to work well. Otherwise, color blindness will occur.
There are two main types of color blindness, namely:
- Partial color blindness, in which the sufferer has difficulty distinguishing only blue and yellow, or only green and red.
- Total color blindness or achromatopsia. People with this condition can only see the colors gray, black, and white.
2. 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 patients with this disease have an abnormal shape, causing them to not live long like he althy blood cells in general.
Sickle cell disease can be problematic, because it allows the blood cells to get trapped in the blood vessels. Children with this condition from birth can be anemic, prone to infection, and sick in several parts of the body. Even so, there are also sufferers who can live a normal life.
Hemophilia is a group of blood disorders that are hereditary. This genetic disorder occurs due to an error in one of the genes on the X chromosome that determines how the body makes blood clotting factors.
This condition causes the blood to not clot normally, so that when the sufferer is injured or injured, the bleeding will take longer.
4. Klinefelter syndrome
A genetic disorder that only occurs 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 a disproportionate shape.
Another characteristic feature of this genetic disorder is a lack of the hormone testosterone and infertility.
5. Down syndrome
Down syndrome occurs due to excess genetic material in children, causing delays in the child's physical and mental development.
Normally, a person gets 23 chromosomes from the father and 23 chromosomes from the mother for a total of 46 chromosomes. In Down 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 earlier before the child is born. The condition of children with Down syndrome can be different from one another.
Some children can live quite he althy lives, while others have he alth problems, such as heart or muscle disorders.
Most medical conditions caused by genetic disorders cannot be prevented. However, some can be detected in the womb through chromosomal examination, 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 to the doctor in order to detect genetic abnormalities in the fetus early on.