Sickle-cell anemia

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Sickle-cell anemia

Sickle-cell anemia (pronounced: /ˈsɪkəl sɛl ænɪˈmiːə/) is a genetic disorder that affects the red blood cells in the body. The term "sickle-cell" refers to the abnormal, crescent shape of the affected red blood cells, while "anemia" refers to a condition where the body lacks enough healthy red blood cells to carry adequate oxygen to the body's tissues.

Etymology

The term "sickle-cell anemia" is derived from the English words "sickle" and "cell", referring to the shape of the affected red blood cells, and "anemia", a Greek word meaning "lack of blood". The condition was first described in 1910 by American physician James B. Herrick.

Definition

Sickle-cell anemia is a severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels. It is most common among those of African descent.

Symptoms

Symptoms of sickle-cell anemia can vary and may include anemia, episodes of pain, swelling of hands and feet, frequent infections, and delayed growth or puberty.

Causes

Sickle-cell anemia is caused by a mutation in the HBB gene, which provides instructions for making beta-globin, a component of hemoglobin. This mutation results in the production of abnormal hemoglobin, known as hemoglobin S, which distorts red blood cells into a sickle, or crescent, shape.

Treatment

Treatment for sickle-cell anemia typically involves managing symptoms and avoiding crises. This may include medications, blood transfusions, and in some cases, a bone marrow transplant.

Related Terms

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