Hereditary ovalocytosis

Definition

Hereditary ovalocytosis is rare condition passed down through families (inherited) in which blood cells are slightly oval-shaped instead of round. It is a form of hereditary elliptocytosis.

Alternative Names

Ovalocytosis - hereditary

Causes, incidence, and risk factors

Ovalocytosis is mainly found in Southeast Asian populations.

Symptoms

Newborn infants with ovalocytosis may have anemia and jaundice. Adults usually do not show symptoms and are known as asymptomatic.

Signs and tests

An examination by your health care provider may occasionally 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).

Complications

The condition may be associated with gallstones or kidney problems.

References

Golan DE. Hemolytic anemias: red cell membrane and metabolic defects. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 165.

Review Date:2/5/2010

Reviewed by:David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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