Sickle cell disease
Embury, Stephen H. Hematology Division of the Medical Service, San Francisco General Hospital, San Francisco, California.
Last reviewed:February 2020
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An inherited disorder of red blood cells characterized by lifelong anemia and recurrent painful episodes. Sickle cell disease, also termed sickle cell anemia, is a chronic, hereditary hemolytic and thrombotic disease in which hypoxia (oxygen deprivation) causes red blood cells (erythrocytes) to assume a sickle shape (Fig. 1). This condition occurs in individuals who are homozygous for the sickle cell hemoglobin trait. The sickle cell mutation is caused by a single nucleotide effecting a change in the β-globin gene, resulting in the substitution of valine for glutamic acid as the sixth amino acid of β-globin. The short circulatory survival of red blood cells that contain sickle cell hemoglobin S results in anemia, and their abnormal rigidity contributes to painful obstruction of small blood vessels (Fig. 2). See also: Amino acid; Anemia; Blood; Gene; Genetic code; Hemoglobin; Mutation
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