Elliptocytosis

Elliptocytosis is a condition characterized by abnormally shaped red blood cells, known as elliptocytes. These cells have an elongated, oval shape, rather than the typical round shape of healthy red blood cells. This condition can lead to a variety of health problems, including anemia, jaundice, and gallstones.

Causes

Elliptocytosis is usually caused by genetic mutations that affect the proteins responsible for maintaining the shape and flexibility of red blood cells. These mutations can be inherited from one or both parents. In some cases, elliptocytosis can also be acquired as a result of certain diseases or conditions, such as iron deficiency or malaria.

Symptoms

The symptoms of elliptocytosis can vary widely, depending on the severity of the condition. Some people with elliptocytosis may not experience any symptoms, while others may experience symptoms such as fatigue, pale skin, shortness of breath, and jaundice.

Diagnosis

Elliptocytosis is typically diagnosed through a blood test, which can reveal the presence of abnormally shaped red blood cells. In some cases, a bone marrow biopsy may also be performed to confirm the diagnosis.

Treatment

The treatment for elliptocytosis depends on the severity of the condition and the specific symptoms experienced by the individual. In mild cases, no treatment may be necessary. In more severe cases, treatment options may include blood transfusions, iron supplements, and in some cases, surgery to remove the spleen.

See also

• Anemia
• Jaundice
• Gallstones
• Iron deficiency
• Malaria

Elliptocytosis Resources
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