Hereditary ovalocytosis
Ovalocytosis - hereditaryHereditary ovalocytosis is a rare condition passed down through families (inherited). The blood cells are oval-shaped instead of round. It is a form of hereditary elliptocytosis.
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Causes
Ovalocytosis is mainly found in Southeast Asian populations.
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Exams and Tests
An exam by your health care provider may show an enlarged spleen.
This condition is diagnosed by looking at the shape of blood cells under a microscope. The following tests may also be done:
- Complete blood count (CBC) to check for anemia or red blood cell destruction
- Blood smear to determine cell shape
- Bilirubin level (may be high)
- Lactate dehydrogenase level (may be high)
- Ultrasound of the abdomen (may show gallstones)
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Treatment
In severe cases, the disease may be treated by removal of the spleen (splenectomy).
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Possible Complications
The condition may be associated with gallstones or kidney problems.
References
Gallagher PG. Hemolytic anemias: red blood cell membrane and metabolic defects. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 152.
Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 45.
Merguerian MD, Gallagher PG. Hereditary elliptocytosis, hereditary pyropoikilocytosis, and related disorders. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 486.