September is National Sickle Cell Awareness Month. Learn about the disease, the experiences of people living with it, and advances in research and care.
Submitted by Malena Edwards
Most people have dreams for the future, but what if you were living with a condition so debilitating that you weren’t able to plan beyond your next trip to the hospital? This was the reality for Juliana Voss whose sickle cell disease (SCD) resulted in up to 8 hospital visits a year. “I was always sick,” she recalled. “It was brutal.”
Until a stem cell transplant changed her life, Juliana’s experience was not unlike that of many of the estimated 100,000 people in the U.S. who are living with SCD. SCD is a group of inherited red blood cell disorders that affect hemoglobin, a protein that carries oxygen throughout the body. Normally, red blood cells are disc-shaped and flexible, allowing them to move easily through the blood vessels and deliver oxygen to cells and tissues. SCD gets its name because the abnormal hemoglobin protein causes some red blood cells to form a distinct crescent, or “sickle” shape, that can block the flow of blood and cause recurring episodes of intense pain.
People living with SCD often experience symptoms, including extreme tiredness and pain, as well as life-threatening conditions such as anemia, heart problems, and even stroke. Research supported by the National Heart, Lung, and Blood Institute (NHLBI) has helped advance the understanding of SCD and improved treatment options and clinical care. Now, there are several ways to manage SCD, including with medicines, blood transfusions, gene therapy, and bone marrow transplants.
Until recently, a bone marrow transplant was the only cure for SCD. But in December 2023, the U.S. Food and Drug Administration approved two new gene therapies for SCD. One therapy adds a healthy copy of a gene to the body, and the other makes changes to the DNA to turn off production of the sickle hemoglobin and turn on production of fetal hemoglobin, which is normally only found in the red cells of babies in the womb or shortly after birth. Researchers at the NHLBI are exploring other types of gene therapies that may help provide new SCD treatments.
After her treatment, Juliana was able to go to school and become a registered nurse. She loves working with her patients, some of whom are living with SCD themselves. Reflecting on her journey with SCD and her treatment, “I felt a huge difference. It was like day and night. My experience has made me a better nurse.”
For more information and resources about SCD and other blood diseases and disorders, visit the NHLBI’s Blood Diseases & Disorders Education Program. Visit NHLBI’s clinical trials page to see whether you or someone you love is eligible to take part in an NHLBI study on SCD.
