Genetic disorders occur due to a specific mutation in one or multiple genes. These mutations can surface due to a variety of issues like – discrepancies in DNA replication, exposure to radiation, and the external environment.
Human DNA is like a book that provides a complete set of instructions regarding growth and development. Hence any minor error can cause fatal repercussions. When a DNA molecule mutates, the protein it codes for is also changed. That way, the protein is now unable to carry out the function that it otherwise accomplished.
There exist a total of 6000 genetic disorders. Around 65% of the people in the world have some sort of health problem as a result of genetic errors. Let us now learn about the most common genetic disorders in the world:
1. Sickle Cell Anemia
As per 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 (RBCs) in the body that carry oxygen. The cells are generally round-shaped to facilitate easy movement within the blood vessels.
However, due to a mutation in the HBB gene present on chromosome number 11, the RBCs become sickle-shaped and sticky, which restricts blood flow. The condition is extremely painful. No cure for SCA has been found up until now. However, several treatments have been associated with pain relief and reducing further complications.
2. Down’s Syndrome
Another one of the most common genetic disorders is Down’s Syndrome. As per the CDC, every year, 6000 children in America are born having the condition. It is caused by an error in cell division that creates a full extra or partial copy of chromosome number 21.
The severity of Down’s Syndrome occurs in a spectrum, with some people being more affected than others. It is found to cause developmental and cognitive difficulties in newborns. It also causes other medical issues, including gastric and heart-related conditions.
Read more: Effects of Childhood Trauma In Adults
3. Cystic Fibrosis
About 30,000 people in America have cystic fibrosis. The condition causes severe damage to the digestive system, lungs, and other organs of the human body. It primarily affects the cells that produce:
- sweat, and
- digestive juices.
In general, the substance that is produced by these cells is a lubricant that aids the pathways in the body. However, due to a mutation in chromosome number 7, the products of these cells become sticky. Instead of assisting passage, they block tubes, pathways, and ducts.
Several new advancements in the field of medical science have led to an increase in the lifespan of people having cystic fibrosis.
4. Fragile X Syndrome
The exact number of people having Fragile X Syndrome (FXS) is unknown. However, as per the CDC, a review of the research says that 1 in 7,000 males and 1 in 11,000 females have FXS.
FXS causes several types of learning and developmental difficulties. A mutation in the FMR1 gene is responsible for the occurrence of FXS. This gene codes for synapses or the connections between nerve cells. These connections are vital for transporting nerve impulses from one cell to another.
About a third of children having FXS also have symptoms of Autism Spectrum Disorder. Impulsive actions and anxiety issues are also common.
Genetic disorders are serious and, in several cases, life-threatening conditions. Proper medical care and a supportive environment are critical to ensuring the well-being of the patient.
Do you know that not just physical disorders but mental disorders might also have a genetic link? To find out more, click here.
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