Here are five of the most common genetic disorders, along with a brief overview of each:
- Down syndrome: Down syndrome is caused by an extra copy of chromosome 21. This leads to intellectual disability, characteristic facial features, and a range of physical health problems such as heart defects, digestive issues, and hearing loss. It is the most common chromosomal disorder and affects approximately 1 in every 700 babies born.
- Cystic fibrosis: Cystic fibrosis is caused by mutations in the CFTR gene, which provides instructions for making a protein that regulates the flow of salt and fluids in and out of cells. This leads to a buildup of thick, sticky mucus in the lungs, pancreas, and other organs, which can cause breathing problems, digestive issues, and other health problems. It affects approximately 1 in every 2,500 to 3,500 newborns in the United States.
- Sickle cell anemia: Sickle cell anemia is caused by mutations in the HBB gene, which provides instructions for making a protein called hemoglobin. This leads to misshapen red blood cells that can cause a range of health problems such as anemia, pain, and organ damage. It is most common in people of African descent and affects approximately 1 in every 365 African American babies born in the United States.
- Huntington’s disease: Huntington’s disease is caused by mutations in the HTT gene, which provides instructions for making a protein called huntingtin. This leads to the gradual destruction of nerve cells in the brain, which can cause a range of symptoms such as movement problems, cognitive decline, and psychiatric symptoms. It is an inherited disorder and affects approximately 1 in every 10,000 people worldwide.
- Hemophilia: Hemophilia is caused by mutations in genes that provide instructions for making proteins that are necessary for blood clotting. This can lead to prolonged bleeding after injury or surgery, as well as internal bleeding that can damage organs and tissues. There are two main types of hemophilia, hemophilia A and hemophilia B, which are caused by mutations in different genes. Hemophilia A affects approximately 1 in every 5,000 to 10,000 males born, while hemophilia B affects approximately 1 in every 25,000 males born.