Hereditary ovalocytosis

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Hereditary ovalocytosis

Definition

Hereditary 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.

Alternative Names

Ovalocytosis - hereditary

Causes

Hereditary ovalocytosis is mainly found in Southeast Asian populations.

Symptoms

Newborn infants with hereditary ovalocytosis may have anemia and jaundice. Adults most often do not show symptoms.

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)

Treatment

In severe cases, the disease may be treated by removal of the spleen (splenectomy).

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, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 147.

Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2018:chap 46.

Prozora S, Gallagher PG. Hereditary elliptocytosis, hereditary pyropoikilocytosis, and related disorders. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 508.

Review Date: 3/31/2024
Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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