Genetic disorders are caused by mutations in a person's DNA, which can be inherited from their parents or acquired during their lifetime. These mutations can lead to a variety of conditions, including chromosomal disorders, complex disorders, and single-gene disorders. Three of the most common genetic disorders are Down syndrome, thalassemia, and cystic fibrosis. Chromosomal disorders occur when there is an abnormality in the number or structure of chromosomes.
Down syndrome is an example of a chromosomal disorder, in which an individual has three copies of chromosome 21 instead of two. This can lead to mild to severe cognitive delays, as well as a greater predisposition to congenital heart defects, lower muscle tone, shorter physical height, and an upward tilt of the eyes. According to the Centers for Disease Control and Prevention (CDC), approximately one out of every 700 babies born in the U. S.
will have Down syndrome. Complex disorders are caused by mutations in two or more genes. Thalassemia is a family of inherited genetic conditions that limit the amount of hemoglobin a person can produce naturally. This can lead to severe anemia and other health problems.
People who are especially likely to carry the defective gene responsible for thalassemia are those from Southeast Asia, India, China, the Middle East, the Mediterranean and North Africa. Single-gene disorders are caused by mutations in a single gene. Cystic fibrosis is a chronic genetic condition that causes patients to produce thick, sticky mucus, which inhibits their respiratory, digestive and reproductive systems. Approximately 25 percent of children who inherit the cystic fibrosis gene from both parents will be born with cystic fibrosis.
In the United States, there are close to 30,000 people living with cystic fibrosis and often develop major health problems. Nurse practitioners and doctors often perform detailed prenatal screening tests to detect chromosomal material and other substances in the mother's blood. These tests can determine if a child will be born with Down syndrome or not. If there is a family history of a genetic disorder, genetic counseling may be recommended to see if genetic testing is right for you. When a person is diagnosed with any form of genetic disorder, they may require specialized care such as periodic blood transfusions and chelation therapy. Educated nurse practitioners can extend the survival time of a typical patient by offering effective care strategies that include physical therapy, as well as dietary and medical supplements. To understand the causes of genetic disorders, it's helpful to learn more about how genes and DNA work.
By compiling evidence-based statistical observations, professionals have identified some of the current best practices for detecting, treating and potentially preventing some genetic disorders. By adding new knowledge in the detection, prevention and treatment of genetic disorders, nurses with advanced degrees can play a key role in helping parents, children, adults who suffer from them and society in general. If you or a loved one has a genetic disorder, it's important to seek care from an experienced specialist. Wherever you are in your career and wherever you want to be, look to Regis for a direct path regardless of your education level.