Clinical Definition

Sickle cell disease is a group of hereditary disorders of erythrocytes, typically diagnosed in neonates with a blood test. Homozygous and compound heterozygous individuals have symptomatic disease, while heterozygous individuals have sickle cell trait, a generally benign condition. SCD is characterized by anemia, pain, potentially life-threatening complications such as bacterial septicemia, acute chest syndrome and chronic organ damage, caused by chronic hemolysis and intermittent episodes of vascular occlusion. Treatment focuses on symptom control.

In Our Own Words

Sickle cell disease, also known as sickle cell anemia, is a group of complex inherited disorders affecting the red blood cells. Different variants are possible, depending on which genes are inherited. In SCD, typically diagnosed with a blood test at birth, the red blood cells (which are supposed to be round and smooth) look like a farm tool shaped as a half moon, known as a sickle. Sickle cells also become sticky, and get caught in blood vessels and die sooner than normal, leading to a constant shortage of red blood cells, which are important to carry oxygen to the entire body.

Painful episodes (called “crises”) are common, lasting from hours to days and causing pain in the chest, joints, lower back and other areas. Fatigue, paleness and shortness of breath are also common. Patients with SCD can have complications in various organs, including the spleen, which results in a greater risk of infection with certain kinds of bacteria. Treatment focuses on controlling symptoms and complications, such as giving blood transfusions and pain medicines, and giving IV fluids.  The only cure for SCD is a stem cell transplant or a bone marrow transplant.