Genetic disorders are caused by a specific mutation in one or several genes. These mutations can appear due to a variety of issues such as – inconsistencies in DNA replication, exposure to radiation, and the external environment.
Human DNA is like a book that provides a full set of instructions for growth and development. Hence any simple mistake can cause fatal repercussions. When a DNA molecule mutates, the protein it codes for also changes. In this way, the protein is now unable to perform the function it used to do.
There is a total 6000 genetic disorders. Around 65% of people In the world they have some kind of health problems as a result of genetic errors. Now let’s get acquainted with the most common genetic disorders in the world:
1. Sickle cell anemia
According to the Centers for Disease Control (CDC) in America, sickle cell anemia (SCA) affects 100,000 people in the country, making it one of the most common genetic disorders. The disease primarily affects the red blood cells (erythrocytes) in the body that carry oxygen. The cells are generally round to facilitate movement within the blood vessels.
However, due to a mutation in the HBB gene located on chromosome number 11, RBCs become sticky and sickle-shaped, which limits blood flow. The condition is very painful. No cure for SCA has yet been found. However, several treatments have been associated with pain relief and a reduction in further complications.
2. Down syndrome
Down syndrome is one of the most common genetic disorders. According to the CDC, every year 6000 babies are born in America with the condition. It is caused by an error in cell division that leads to the creation of an extra or partial complete copy of chromosome number 21.
The severity of Down syndrome occurs in a varied spectrum, with some people affected more than others. It has been found to cause developmental and cognitive difficulties in newborns. It also causes other medical problems, including stomach and heart disease.
Read more: Effects of childhood trauma in adults
3. Cystic fibrosis
Around 30,000 people In America are infected with cystic fibrosis. The condition causes severe damage to the digestive system, lungs, and other organs in the human body. It primarily affects cells that produce:
- race and
- digestive juices;
In general, the substance produced by these cells is a lubricant that helps in the pathways of the body. However, due to a mutation in chromosome number 7, the products of these cells become sticky. Instead of helping traffic, they block pipes, paths, and canals.
Several new developments in the field of medical science have increased the lifespan of people with cystic fibrosis.
4. Fragile X syndrome
The exact number of people with fragile X syndrome (FXS) is unknown. However, according to the CDC, a review of the research indicates that 1 in 7,000 males and 1 in 11,000 females have FXS.
FXS causes several types of learning and developmental difficulties. The mutation in the FMR1 gene is responsible for the occurrence of FXS. This gene encodes synapses, or connections between nerve cells. These connections are vital for transmitting nerve impulses from one cell to another.
About a third of children with FXS syndrome also have symptoms autism spectrum disorder. Impulsive actions and anxiety issues are also common.
Genetic disorders are serious and in many cases life-threatening. Appropriate medical care and a supportive environment are critical to ensuring the patient’s well-being.
Did you know that not only physical disorders but mental disorders may also have a genetic link? To learn more, click over here.
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