Hereditary elliptocytosis

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Hereditary elliptocytosis (pronounced: həˈredəˌterē ˌelipˌtōˈsīdōsəs) is a genetic disorder that affects the red blood cells, causing them to take on an abnormal elliptical shape. This condition is also known as ovalocytosis.

Etymology

The term "hereditary elliptocytosis" is derived from the Greek words "hereditas" (meaning inheritance), "elliptikos" (meaning elliptical or oval-shaped), and "-osis" (meaning condition or disorder).

Symptoms

The symptoms of hereditary elliptocytosis can vary greatly from person to person. Some individuals may not experience any symptoms, while others may have mild to severe anemia, jaundice, and gallstones.

Causes

Hereditary elliptocytosis is caused by mutations in the EPB41, SPTA1, or SPTB genes. These genes provide instructions for making proteins that are part of the cytoskeleton, a network of fibers that give shape and flexibility to red blood cells.

Diagnosis

Diagnosis of hereditary elliptocytosis is typically made through a blood test that can identify the characteristic elliptical shape of the red blood cells. Genetic testing may also be performed to confirm the diagnosis.

Treatment

There is currently no cure for hereditary elliptocytosis. Treatment is typically focused on managing symptoms and may include blood transfusions, folic acid supplements, and in severe cases, splenectomy (removal of the spleen).

See also

External links

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