The human genome is a complicated structure that makes us human. Unfortunately, with all that complexity, some problems occur. If anything goes wrong with the genetic structure, we are talking about genetic disorders.
Technically speaking, a genetic disorder is what causes numerous health issues and diseases. These kinds of disorders are usually transferred from either one or both parents. Thousands of genetic disorders vary immensely in their level - from small mutations of a single gene to significant mutations that create chromosomal abnormality.
Most commonly, genetic disorders are divided into four main categories: chromosome abnormalities, mitochondrial inheritance, multifactorial inheritance, and gene inheritance. All of these can occur in one's life randomly or after specific exposures and stimulations from the environment. In the US, these five genetic disorders are the most common.
5. Huntington's Disease
This type of disease is the one that creates degenerative problems with a person's brain. Huntington's disease is also an autosomal dominant genetic disorder. This means that there is a 50% chance that the child will inherit this if one of the parents suffers from the disorder.
Problems usually appear between 30 and 45 years of age, and it causes many issues that result in loss of their ability to walk, talk, or even think. Depression is common with people who have Huntington's, and the weakening of short-term memory accompanies it.
Unfortunately, the list continues with blood-related disorders. This is one of those that will keep troubling the person who has it for their entire life. Haemophilia is a disorder that manifests itself with a person's inability to clot blood. This results in spontaneous bleeding, which is very often very excessive and internal.
3. Down Syndrome
One in every 700 babies born will suffer from this genetic disease. For a person that is born without Down syndrome, each cell contains 23 pairs of chromosomes. Down syndrome happens because the 21st chromosome is copied across the genome, either only one time or in all cells.
Today, it is also possible to diagnose if a baby will be born with the disorder very early in a woman's pregnancy. People that are born with Down syndrome suffer from a broad spectrum of cognitive difficulties. They are also prone to developing congenital heart defects, low muscle mass, and a relatively small body size.
This is another disorder that is caused by defective production of hemoglobin. There are two types of this genetic disorder, based on what chromosome is involved in problems related to hemoglobin production known as alpha and beta thalassaemia.
One thing about this genetic disorder is that it can be detected in a child when the mother is still in her first trimester, so the treatment of the disorder can start as soon as possible. Because of this, the quality of life can be massively improved for a person who suffers from thalassaemia.
1. Sickle Cell Anemia
This genetic disorder is caused by a hemoglobin molecule that is now working as it should. As a result, the shape of our blood cells changes from being round to being shaped like a sickle. This is dangerous because blood cells of that shape have a hard time moving through our bodies, especially if they have to pass through smaller blood vessels.
As a result, the sickle cell anemia leads to deprivation of blood with specific organs and tissues in our body. Blood cells, because they are slower, also have a shorter life span, and people who suffer from this genetic disorder are constantly lacking red blood cells.
What is haemophilia?
Haemophilia is a genetic disorder characterized by life-threatening internal and spontaneous bleeding because the blood is unable to clot.
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