September is Sickle Cell Awareness Month. The rare blood disease affects nearly 100,000 people in the United States, according to the latest numbers from the Centers for Disease Control and Prevention. More than 90 percent of those with the disease are Black or African American and 9 percent are Hispanic or Latino, with the highest concentration in the southeast United States. Dr. Courtney Fitzhugh is a hematologist-oncologist with the National Institute of Health working on new treatments for the disease.
"A disease that impact red blood cells,” Fitzhugh said. “Normally red blood cells are shaped like a donut and they're easily deformable and they move throughout the blood vessels, and they carry oxygen to the organs. But with sickle cell disease, the red blood cell is shaped like a sickle or a crescent and they're stiff, so they get stuck in the blood vessels so that the organs don't get the oxygen that they need. So that's why with these approaches we're using blood stem cells because they make all the blood cells that we need, including red blood cells."
Last year the U.S. Food and Drug Administration approved a landmark gene-editing treatment for the inherited blood disease. Until now, bone marrow transplants from a matching donor were the only effective treatments. Fitzhugh said these new gene therapies are a breakthrough.
“Traditionally family members served as donors,” Fitzhugh said, “whether they are a complete tissue match, that's referred to as match sibling donors, or half match, which is what my lab focuses on. So, parents and children and half matched siblings can serve as donors. With gene therapy and gene editing, you're using the patient as the donor. So, you're taking the blood stem cells from the patient and you're manipulating them either to make normal red blood cells or some studies use increased fetal hemoglobin, which is a protein that helps to keep the red cells from sickling."
Sickle cell disease impacts nearly every organ of a patient's body, Fitzhugh explains, and results in severe chronic pain, ulcers, bone-density loss, anemia and other life-threatening health problems. She said the disease is often misunderstood and has been historically undertreated.
"Even physicians don't know how to treat sickle cell disease,” she said, “and sometimes they don't believe that the patients are having pain. It's not something you could look at somebody and say, 'Oh, you're having the severe pain. There's a lot of knowledge that needs to be passed on to not only the patients to serve as their own advocates, but even as two physicians, and we even need more people to become interested in sickle cell disease and take care of, especially adults with sickle cell disease."
Fitzhugh said since the approval of these new gene therapies research and treatments for sickle cell have advanced more rapidly, but more clinical trials are needed.
"But, in the last decade there have been three new drugs that have been FDA approved, and there are a lot more drugs that are being studied in clinical trials,” Fitzhugh said. “There's two new caretive approaches that were just FDA approved in December, but there's also new caretive approaches that are being studied in clinical trials."
You can find more on sickle cell disease and Dr. Fitzhugh's research here.
Ozarks at Large transcripts are created on a deadline. This text may not be in its final form and may be updated or revised in the future. The authoritative record of KUAF programming is the audio record.
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