Sickle Cell Anemia

Sickle cell anemia is a hereditary form of anemia—a condition in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body. This disease is caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. Individuals with sickle cell anemia inherit two copies of the sickle cell gene, one from each parent. When affected, the hemoglobin, which is responsible for carrying oxygen in the blood, forms rigid rods within the red blood cells, causing them to take on a sickle or crescent shape. These malformed cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

The irregularly shaped cells have a shorter lifespan than normal red blood cells, leading to a persistent shortage of red blood cells, known as chronic hemolytic anemia. People with sickle cell anemia may experience painful episodes called vaso-occlusive crises, which result from the impeded blood flow to different tissues, causing pain and potential organ damage. Other complications can include increased susceptibility to infections, delayed growth, and vision problems. Management of the disease typically focuses on avoiding pain episodes, relieving symptoms, and preventing complications through medications, blood transfusions, and sometimes bone marrow transplants.