by Jennifer Dykeman, MMSc Candidate
June 19th marks the annual celebration of World Sickle Cell Day! Did you know that about 100,000 Americans have sickle cell disease (SCD)? This condition is seen in every population, but is more common among individuals whose ancestors came from sub-Saharan Africa, South America, the Caribbean, Central America, Saudi Arabia, India, Turkey, Greece, and Italy. About 1 in every 365 Black or African American babies in America have SCD.
Sickle cell disease is an inherited blood condition that affects the shape and function of red blood cells. Red blood cells are important for carrying oxygen to our body tissues with the help of a substance called hemoglobin A. People with sickle cell disease make a different type of hemoglobin instead of hemoglobin A, called hemoglobin S. Red blood cells with hemoglobin S do not live as long as red blood cells with hemoglobin A and do not function as effectively. These cells are also not the typical round shape, but rather sickled-shaped, which can look like a crescent moon. Those with sickle cell disease can experience symptoms like anemia, fatigue, stroke and significant pain crises.
The majority of individuals with sickle cell disease have two copies of the gene causing hemoglobin S, but some individuals can have other hemoglobin variants (like hemoglobin C) that can also cause similar symptoms when combined with one copy of hemoglobin S.
Sickle cell disease is a recessive condition, meaning someone with the condition has the genetic change that causes SCD in both copies of their sickle cell gene. If someone has the genetic change in one copy of this gene, they are considered a carrier and they have sickle cell trait. Individuals with sickle cell trait typically do not show symptoms but may have increased protection against malaria infection. About 1 in 13 Black or African American individuals have sickle cell trait. This information could be important to someone if they would want to know chances of a future pregnancy to have sickle cell disease.
Most people with sickle cell disease or sickle cell trait in the United States are diagnosed through newborn screening after a baby is born. Testing for parents can also be done before or during a pregnancy to learn more about their carrier status and the chance for a pregnancy to be affected.
We’ve gathered some helpful resources to learn more about sickle cell disease and sickle cell trait below.
Sickle Cell Disease Association of America, Inc.
The Sickle Cell Disease Association of America is a national organization that works to advocate for people affected by sickle cell conditions, foster connections through community-based organizations, and raise public awareness while advancing the search for a universal cure. Their website provides an online library with up-to-date educational resources about SCD, offers opportunities to get involved in their community-based chapters, and has links to recent news about SCD. See more of what their organization has to offer here.
Centers for Disease Control and Prevention
The Centers for Disease Control and Prevention (CDC) has a dedicated page for sickle cell disease with links to information about SCD in general, pages about complications, information on living a healthy life with SCD, research, data, and relevant articles. They also provide materials such as fact sheets, tip sheets, infographics, videos and podcasts. Explore their resources by visiting Learn more about SCD on the CDC website.
The National Society of Genetic Counselors
If you have a personal or family history of sickle cell disease or sickle cell trait and would want to learn more about this condition, you can locate a genetic counselor by using the National Society of Genetic Counselor’s Find a Genetic Counselor tool at Find a Genetic Counselor – National Society of Genetic Counselors
As always, talk to your doctor about any information presented in this article, on the sites listed in this article, and with any questions you may have about your family’s care. Remember your doctor and genetic counselor are there to help!