About Sickle Cell Disease

Sickle cell anemia is the most clinically significant disease in a group of disorders in which sickle hemoglobin is present. It is so named because the normal biconcave shape of the red blood cells is, instead, sickle shaped. It was first described by James Herrick over 90 years ago.

The Nobel Prize chemist, Linus Pauling, deduced the genetic nature of the disease. Hemoglobin molecules in red blood cells bind oxygen in the lung and delivers it to the body's cells. Sickle red cells have a genetically defective hemoglobin and, although they bind oxygen, upon its delivery and release to the body's cells, sickle hemoglobin forms polymers or crystals. The crystals distort the shape of the red blood cell giving it the sickle shape. The disease primarily affects Africans and those of African heritage. It has been suggested that the sickle cell mutation thrived because it protected people from a more deadly disease, malaria. An online database cataloging human genetic diseases, including all the hemoglobin disorders, is available at the National Center for Biotechnical Information.