Sickle cell

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Sickle Cell Anemia

Sickle cell anemia (pronounced: /ˈsɪkəl sɛl əˈniːmiə/) is a genetic disorder that affects the red blood cells. The name "sickle cell" comes from the abnormal crescent or sickle shape of the affected red blood cells, which is due to a mutation in the hemoglobin gene.

Etymology

The term "sickle cell" is derived from the Greek word "sikylos" meaning "cucumber", and the Latin word "cella" meaning "small room". This is in reference to the sickle or crescent shape of the red blood cells in this condition.

Definition

Sickle cell anemia is a genetic disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. These sickle-shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

Symptoms

Symptoms of sickle cell anemia can include anemia, episodes of pain, frequent infections, delayed growth, and vision problems. The severity of symptoms can vary from person to person.

Causes

Sickle cell anemia is caused by a mutation in the HBB gene, which provides instructions for making a protein called beta-globin. Beta-globin is a component of hemoglobin, the protein in red blood cells that carries oxygen.

Treatment

Treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms, and preventing complications. Treatments might include medications, blood transfusions, and rarely a bone marrow transplant.

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