According to the National Human Genome Institute, 350 million people worldwide have rare genetic disorders—but advances in gene therapy are offering hope for many people born with these illnesses. “We showed that we could significantly benefit these patients and get some of them off their lifelong supplemental immunoglobulin injections, cure their chronic illnesses, and give them back a good quality of life,” says Harry Malech, chief of the Genetic Immunotherapy Section in the National Institute of Allergy and Infectious Diseases’ Laboratory of Clinical Immunology and Microbiology. “We have now treated 13 older children and young adults and the results are looking very promising.” Here are five signs of inherited genetic disorders, according to experts. Read on—and to ensure your health and the health of others, don’t miss these Sure Signs You’ve Already Had COVID.
Excessive bleeding from cuts and wounds could be a sign of hemophilia, a rare genetic disorder where blood does not clot properly. “Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting,” says the National Human Genome Research Institute. “The responsible gene is located on the X chromosome, and since males inherit only one copy of the X chromosome, if that chromosome carries the mutated gene then they will have the disease. Females have a second, usually normal, copy of the gene on their other X chromosome, so they are capable of passing on the disease without experiencing its symptoms.”
Frequent lung infections and persistent coughing could be a sign of cystic fibrosis. “Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus,” says the NHS. “It can cause problems with breathing and digestion from a young age. Over many years, the lungs become increasingly damaged and may eventually stop working properly. A number of treatments are available to help reduce the problems caused by the condition, but unfortunately average life expectancy is reduced for people who have it.”
Thalassemia is a blood disorder where the body has less hemoglobin than usual. A common sign of this disorder is extreme fatigue and weakness, as a result of anemia. “Anemia can make you feel tired, weak, or short of breath. Or, depending on the type of thalassemia you have and how serious it is, you may have no symptoms at all,” says the National Heart, Lung, and Blood Institute. “More serious types of thalassemia are usually diagnosed before a child is 2 years old.”
Severe mood swings and personality changes could be a sign of Huntington’s disease, a rare inherited condition where nerve cells in the brain degenerate over time. “Behavioral symptoms in HD are a direct result of changes in the brain caused by the illness,” says Barbara J. Kocsis, MD. “This happens because Huntington’s disease damages important structures and pathways in the brain—and this damage causes the problems with movement, thinking, and behavior we see in Huntington’s patients.”
An increased risk for bacterial infections could be a sign of sickle cell anemia, a rare inherited blood disorder. “Normal red blood cells can live up to 120 days. But, sickle cells only live for about 10 to 20 days,” says Johns Hopkins Health. “Also, sickle cells may be destroyed by the spleen because of their shape and stiffness. The spleen helps filter the blood of infections. Sickled cells get stuck in this filter and die. With less healthy red blood cells circulating in the body, you can become chronically anemic. The sickled cells also damage the spleen. This puts you at greater risk for infections.”
Ferozan Mast is a science, health and wellness writer with a passion for making science and research-backed information accessible to a general audience. Read more about Ferozan