Elliptocytosis

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Elliptocytosis

Elliptocytosis (pronounced: eh-lip-toe-sigh-toe-sis) is a genetic disorder characterized by the presence of abnormally shaped, elliptical red blood cells. The condition is also known as ovalocytosis.

Etymology

The term "elliptocytosis" is derived from the Greek words "elleipsis" (meaning omission or defect) and "kytos" (meaning cell). This refers to the elliptical shape of the red blood cells in this condition.

Types

There are several types of elliptocytosis, including:

  • Hereditary elliptocytosis (HE): This is the most common type of elliptocytosis. It is a genetic disorder that is passed down through families.
  • Hereditary pyropoikilocytosis (HPP): This is a severe form of HE that is present at birth.
  • Idiopathic acquired elliptocytosis: This form of elliptocytosis occurs without a known cause.

Symptoms

Symptoms of elliptocytosis can vary greatly, from no symptoms at all to severe anemia. Common symptoms include fatigue, shortness of breath, and yellowing of the skin and eyes (jaundice).

Diagnosis

Diagnosis of elliptocytosis is typically made through a blood test that examines the shape of the red blood cells. Genetic testing may also be used to confirm a diagnosis of hereditary elliptocytosis.

Treatment

Treatment for elliptocytosis is typically focused on managing symptoms. This may include blood transfusions for severe anemia, and folic acid supplements to help the body produce more red blood cells.

Related Terms

External links

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