 Hereditary ovalocytosis
Definition Alternative Names Causes, incidence, and risk factors Symptoms Signs and tests Treatment Complications References DefinitionHereditary 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 NamesOvalocytosis - hereditary Causes, incidence, and risk factorsOvalocytosis is mainly found in Southeast Asian populations. SymptomsNewborn infants with ovalocytosis may have anemia and jaundice. Adults usually do not show symptoms and are known as asymptomatic. Signs and testsAn 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)
TreatmentIn severe cases, the disease may be treated by removal of the spleen (splenectomy). ComplicationsThe condition may be associated with gallstones or kidney problems. ReferencesGolan 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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