Genetics of an immune system response

Sickle cell anemia is one of the most common genetic blood diseases. It mostly affects people of African descent. A single change in a gene is the cause. The result is not enough healthy red blood cells to carry oxygen through your body. The leading cause of death in adults with sickle cell is acute chest syndrome (ACS). ACS causes chest pain, fever, and makes it hard to breathe. Sickle cells blocking blood vessels in your lung or a lung infection can cause ACS. The complement system helps us fight off infections. It is part of our immune system. When we need this system, about 30 proteins get turned on. Some of these proteins are in our blood stream. Others are on the surface of cells. Sometimes the system does not work well. It might work overtime, or out of control. This can damage your organs. In some people with ACS, this protein system works overtime. This can cause ACS to be severe, or life-threatening. Changes in the some complement system genes may affect how they work. Scientists think there is a link between the gene changes and severe ACS. Researchers at Vanderbilt will use BioVU to look for people with sickle cell anemia and ACS. They will check for gene changes in patients with and without severe ACS. They hope to find a link between the gene changes and severe ACS. The results could help us learn more about ACS. It may also help us learn who might be at risk for severe ACS. We may even learn how to better treat ACS.