September is National Sickle Cell Awareness Month which brings focus on the need for research and treatment for Sickle Cell Disease. SCD is an inherited blood disorder that affects approximately 100,000 people across the U.S. primarily those of African heritage.
SCD causes the body to produce abnormally shaped red blood cells called sickle cells. The abnormal shape of these cells blocks the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (commonly in the arms, legs, chest, and abdomen), and stroke. It also causes damage to most organs including the spleen, kidneys, eyes, and liver.
“Sickle Cell Disease affects millions of individuals around the world,” said Dr. Timothy Tesmer, Chief Medical Officer for the Nebraska Department of Health and Human Services. “While there is not a single best treatment for individuals with SCD, patients are best managed in a comprehensive multi-disciplinary healthcare plan.”
SCD is usually found at birth with a blood test performed during routine newborn screenings. A second blood test (called a hemoglobin electrophoresis) will confirm the diagnosis. This genetic condition is inherited when a child receives two sickle cell genes, one from each parent. A person with SCD can pass the disease on to his or her children. The majority of individuals with SCD live well into adulthood.
Women can have a healthy pregnancy with early prenatal care and careful monitoring throughout the pregnancy. However, women with SCD are more likely to have problems during pregnancy that can affect their health and that of their preborn baby. A woman and her partner should get tested for SCD if they are planning to have a baby. Testing is available at most hospitals or medical centers, from SCD community-based organizations, or at local health departments. If a woman or her partner has SCD, a genetic counselor can provide information to discuss the risks to their children.
There is no single best treatment for individuals with SCD. Treatment options are different for each person depending on their symptoms. Treatment options can include receiving blood transfusions, maintaining a high fluid intake, receiving intravenous therapy, and medications to help with pain.
While there is not a widely available cure for SCD, the U.S. Food and Drug Administration recently approved two cell-based gene therapies, Casgevy and Lyfgenia, for the treatment of SCD in patients 12 years and older. The development of these one-time gene therapies may offer a potential cure or long-term remission for some patients.
For more information visit: https://www.cdc.gov/sickle-cell/. Local health departments may provide a list of support services within the community and have information on early intervention services.