Sickle Cell Disease (SCD), also known as sickle cell anemia, is a hereditary blood disorder characterized by an abnormality in the oxygen-carrying hemoglobinmolecule in red blood cells. This leads to a propensity for the cells to assume an abnormal, rigid, sickle-like shape under certain circumstances. Sickle cell disease is associated with a number of acute and chronic health problems, such as severe infections, attacks of severe pain (“sickle cell crisis”), and stroke, and there is an increased risk of death.

 

Sickle cell disease occurs when a person inherits two abnormal copies of the hemoglobin gene, one from each parent. Several subtypes exist, depending on the exact mutation in each hemoglobin gene. A person with a single abnormal copy may not experience symptoms and is said to have sickle cell trait. The complications of sickle cell disease can be prevented to a large extent with vaccination, preventative antibiotics, blood transfusion, and the drug hydroxyurea. A small proportion requires a transplant of bone marrow cells.

This disorder is common in the African-descended population of the United States and Canada. It affects millions of people around the world, mainly those whose ancestors come from sub-Saharan Africa, Spanish-speaking regions (South America, Cuba, Central America), Saudi Arabia, India, and Mediterranean countries (Turkey, Greece, and Italy).