Many genetic conditions can affect a person during their lifetime. Some are relatively benign, while others can be pretty severe. In some cases, a genetic disorder may not be diagnosed until later in life, after significant damage has been done. It is essential to be aware of the signs and symptoms of common genetic conditions so that an accurate diagnosis can be made as quickly as possible. The only way to find out if you have a genetic disorder is by working with a Winter Park genetic testing specialist. If you are concerned that you or a loved one may have a genetic disorder, don’t hesitate to contact a genetic testing specialist. This article looks at some of the most common genetic diseases everyone should know. Read more below.
- Fragile X syndrome
Fragile X syndrome is characterized by intellectual disability and some physical characteristics. It is the most common known cause of inherited intellectual disabilities, found in approximately 1 in 4,500 boys. The syndrome gets its name from the appearance of part of the X chromosome, which appears fragile under certain types of microscopes. It can cause symptoms such as intellectual disabilities and behavioral problems. Specific characteristics associated with fragile X syndrome include long, thin fingers and toes, large heads, prominent foreheads, unusually flexible thumbs, and sometimes full lips.
- Tay-Sachs disease
Tay-Sachs disease is a condition that destroys nerve cells in the brain. A genetic mutation causes it to carry on a recessive gene, which prevents the body from producing an enzyme called Hex A. Without this enzyme, harmful substances build up and cause progressive damage to the brain’s nerve cells. This damage can lead to various symptoms, including blindness, deafness, seizures, and intellectual disabilities. Tay-Sachs disease is most common in Jewish descent, but it can affect any ethnic group. It is a fatal condition, and most children with Tay-Sachs die before 4.
- Sickle cell anemia
Sickle cell anemia is a blood disorder that primarily affects red blood cells. The disease occurs when a genetic mutation in specific hemoglobin molecules leads to abnormal red blood cells. These sickle-shaped cells lose their ability to flow smoothly through small blood vessels, leading to slower circulation and oxygen delivery throughout the body. Although it is most common in people of African, Mediterranean, Middle Eastern, and Indian descent, those of Hispanic or Southeast Asian descent are also at an increased risk. People with sickle cell anemia may experience fatigue, dizziness, headache, fever, and other flu-like symptoms.
- Cystic Fibrosis
Cystic fibrosis is a hereditary disease that primarily affects the respiratory system, leading to problems with breathing. It is caused by a genetic mutation CFTR gene, which regulates the movement of salt and water in and out of cells. This mutation leads to the production of very thick mucus, which can cause a wide range of problems. Symptoms of cystic fibrosis can vary widely from person to person but may include coughing, wheezing, chest tightness, difficulty breathing, and frequent lung infections.
In summary, you can develop different genetic disorders with varying levels of severity. Common genetic conditions include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and fragile X syndrome.
