Sickle Cell Disease

Sickle Cell Disease (SCD) is a group of inherited red blood cell disorders caused by a mutation in the hemoglobin gene. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In SCD, the mutant hemoglobin forms stiff, sticky, and sickle-shaped cells that are prone to clumping and obstruction in blood vessels. These misshapen cells have a shorter lifespan, leading to a chronic shortage of red blood cells, known as hemolytic anemia. People with this disease suffer from painful episodes known as vaso-occlusive crises, where the sickled cells obstruct capillaries and restrict blood flow to organs, causing pain and potential organ damage.

SCD has a range of clinical manifestations and complications. In addition to pain, it increases the risk of infections, stroke, acute chest syndrome, and organ failure. These complications are due to both chronic anemia and blood vessel blockages. The disease is more common in individuals with African, Mediterranean, Middle Eastern, and Indian ancestry, where malaria is or was endemic. Diagnosis is typically made through a blood test that screens for sickle-shaped red blood cells or the defective form of hemoglobin. Treatment focuses on managing symptoms and reducing complications, including the use of medication, blood transfusions, and potentially curative therapies like bone marrow transplants.