Twenty47HealthNews

Category: National Heart Lung and Blood Institute

  • Sickle Cell Trait: Here’s What You Need to Know

    Sickle Cell Trait: Here’s What You Need to Know

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    According to the American Society of Hematology, 8-10% of African Americans have sickle cell trait. That’s between one and three million of us. Dr. Julie Panepinto, Director of the Division of Blood Diseases and Resources (DBDR) at the National Heart, Lung, and Blood Institute of the National Institutes of Health, explains what you need to know about having the trait and how it may impact your health.

    What is Sickle Cell Trait?

    “When a person has one copy of the sickle cell gene passed down from one parent along with a normal hemoglobin gene (hemoglobin A) from the other parent.” Dr Panepinto explains. “People who have sickle cell trait are sometimes called carriers. A person who has sickle cell trait does not have sickle cell disease (SCD) or sickle cell anemia, but they can pass the sickle cell gene down to their children.” When two parents with the trait have children, there is a 25% chance their child will have SCD.

    About the Screening Processing

    Anyone Black person born in the United States before 1975 had no idea whether they had SCT at birth because testing was not standard. New York State was the first partner in the Sickle Cell Initiative, and now the heel test is done by all states. “Within the first 24 to 48 hours after birth, babies undergo a heel stick, and a few drops of blood are collected on a special paper card. Newborn screening laboratories test the blood samples for various conditions that can be detected at birth, including sickle cell trait and SCD,” Panepinto says. “A positive newborn screening test means your baby likely has the condition reported, but you need more testing by your baby’s doctor to know for sure. Testing of parents may also be recommended.”

    Living With Sickle Cell Trait

    According to Dr. Panepinto, most people with sickle cell trait don’t have serious medical problems. “There are rare cases where some people with SCT can experience complications. Someone is more likely to have complications if their body needs more oxygen than usual, like if they are engaged in intense physical activity, dehydrated, active at high elevations, or in extreme temperatures (hot or cold),” she says. “Some people with sickle cell trait may experience damage to their kidneys or spleen.”

    Dr. Panepinto’s best advice on staying healthy is to be proactive:

    • Eat a healthy diet
    • Exercise regularly
    • Get enough sleep
    • Do not smoke
    • See your doctor regularly

    Visit the NHLBI website to learn more about staying healthy while living with sickle cell trait: www.nhlbi.nih.gov/health/sickle-cell-disease/sickle-cell-trait.

  • Get to Know Sickle Cell Disease

    Get to Know Sickle Cell Disease

    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.”

    Juliana Voss

    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.