Sickle Cell Anemia Awareness

By CooperGenomics — June 14, 2013

1 min read

June 19th marks anniversary of Sickle Cell Awareness Day, and September is Sickle Cell Awareness Month. Since its inception, many organizations have come together to bring more awareness to this serious genetic disease.

What is sickle cell anemia?

Sickle cell anemia (SCA) is a recessive genetic disorder that affects the red blood cells, changing their shape from a round disk-like shape to that of a sickle or crescent moon. Red blood cells contain hemoglobin, which transports oxygen from your lungs to the rest of your body.  When the shape changes, the cells can clog blood vessels, which can cause pain, difficulty breathing, and damage to organs. Because of their abnormal shape, these cells can also break down quickly, which causes anemia in the affected individual.

Individuals with SCA tend to have a shorter lifespan; with improvements in treatment and management, they now live into their 60s. To treat their condition, they occasionally need to undergo blood transfusions. They also need to take antibiotics often as children to protect them from infections.

How is sickle cell anemia inherited?

Since this disease is recessive, both parents need to pass a genetic mutation to their child. If only one mutation is passed on, then the child has sickle cell trait. People with sickle cell trait do not typically have symptoms of the disease. A simple blood test can tell a person if they have sickle cell trait; if both partners in a couple carry it, they have a 25% chance of having a child with SCA.

How common is sickle cell anemia?

SCA is more common in people of African, Mediterranean, Indian, and Hispanic descent. The disease is common in these areas because SCA is protective against malaria, an infectious disease that is passed between people through mosquitoes and is common in these areas as well. Approximately 1 in 500 African Americans and 1 in 1000 Hispanic Americans have SCA. It is the most common blood disorder in the United States.

What’s being done to help people with sickle cell anemia?

Unfortunately, there is no cure for SCA. In addition to routine management, the FDA has approved a hydroxyurea treatment for those with severe recurrent sickling episodes. This is carefully monitored, as larger doses are potentially toxic. Currently, doctors are limited to this single treatment by the FDA, and affected individuals often feel that they have a limited quality of life.

However, there is a new treatment on the horizon. Researchers from the La Jolla Institute, the BloodCenter of Wisconsin, the Dana-Farber/Children’s Hospital Cancer Center, and other organizations are launching the second phase of a clinical trial for Lexiscan, a drug that would reduce pain and increase blood flow in those with SCA. Phase one results were promising, and researchers are optimistic about phase two. Participants for the trial are being recruited in Boston, Baltimore, Detroit, Chicago, Cincinnati, Milwaukee, Chapel Hill, and St. Louis. If you or anyone you know has SCA and is interested in participating in the trial, visit ClinicalTrials.gov to find out more information.

If you’re interested in getting involved with the SCA community, go to WorldSickleCellDay.webs.com to learn about events near your area.