What You Need to Know About 5 Common Genetic Disorders

Genetic disorders can be the outcome of genetic irregularities such as gene mutation or additional chromosomes. The effects of anomalies in an individual’s DNA were once completely unpredictable. However, modern medicine has produced several methods of identifying the potential health outcomes of genetic disorders.

1. Down Syndrome– Usually, the nucleus of a cell contains 23 pairs of chromosomes. Down syndrome occurs when the twenty-first chromosome is copied an extra time in some or all of our cells. Practitioners and physicians typically perform comprehensive prenatal screening tests, such as blood tests, that detects chromosomal material and other substances in the mother’s blood. This kind of testing can determine, with great accuracy, whether or not a child will have Down syndrome. When someone is diagnosed with Down syndrome, they are likely to show differing levels of mild, moderate or even severe cognitive delays. Some other markers of Down syndrome are a higher disposition for congenital heart defects, smaller physical stature, low muscle tone, and an upward slant to the eyes. Studies suggest that the older a mother is at the time of birth, the more likely the child is to have Down syndrome.
2. Thalassemia –Thalassemia is a family of hereditary genetic conditions that limits the amount of haemoglobin an individual naturally produces. This condition inhibits the level of oxygen flow throughout the body. There is about a 25 percent chance that children who inherit the Thalassemia gene from both parents will be born with Thalassemia. People who are more prone to be carriers of the faulty gene that causes Thalassemia include people from Southeast Asian, Indian, Chinese, Mediterranean, Middle Eastern, and Northern African descent. With Thalassemia usually comes severe anaemia, which may require specialized care such as regular blood transfusions and chelation therapy.
3. Cystic Fibrosis –Cystic Fibrosis is a chronic, genetic condition that results in patients producing thick and sticky mucus. This inhibits their digestive, respiratory, and reproductive systems. Cystic Fibrosis is usually inherited at a 25 percent rate when both the parents have the Cystic Fibrosis gene. Educated healthcare providers can extend the typical patient’s survival time by offering effective care strategies that feature physical therapy, as well as medical and dietary supplementation.
4. Tay-Sachs disease –The genetic condition is caused by a chromosomal abnormality similar to that of Down syndrome. However, unlike Down syndrome, Tay-Sachs results from a defect found in chromosome number 15, and the disorder is irreversibly fatal when found in children. Tay-Sachs disease slowly destroys the nervous system, often resulting in death by the age of five.
5. Sickle Cell Anemia –Sickle Cell Disease is a lifelong genetic condition that may be inherited when the Sickle Cell trait is passed down by both parents to their children. The character is more often inherited by people with a sub-Saharan, Mediterranean or Indian heritage. Sickle Cell Disease causes the red blood cells to change from their usual doughnut shape to a sickle shape. Due to this, the cells clump together and get caught in blood vessels, triggering severe pain and serious complications such as infections, organ damage, and acute respiratory syndrome. With the advancement in medicine, the mortality rate has been limited by providing a greater variety of vaccines and treatment options.