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Hereditary ovalocytosis

Ovalocytosis - hereditary

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.

Causes

Ovalocytosis is mainly found in Southeast Asian populations.

Symptoms

Newborn infants with 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. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 161.

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.

Segel GB. Hereditary elliptocytosis. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 459.

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  • Ovalocytoses - illustration

    Red blood cells (RBCs) are normally round. In ovalocytosis, the cells are oval. Other conditions that produce abnormally shaped RBCs include spherocytosis and eliptocytosis.

    Ovalocytoses

    illustration

  • Blood cells - illustration

    Blood is comprised of red blood cells, platelets, and various white blood cells.

    Blood cells

    illustration

  • Ovalocytoses - illustration

    Red blood cells (RBCs) are normally round. In ovalocytosis, the cells are oval. Other conditions that produce abnormally shaped RBCs include spherocytosis and eliptocytosis.

    Ovalocytoses

    illustration

  • Blood cells - illustration

    Blood is comprised of red blood cells, platelets, and various white blood cells.

    Blood cells

    illustration

 

Review Date: 1/19/2018

Reviewed By: Richard LoCicero, MD, private practice specializing in hematology and medical oncology, Longstreet Cancer Center, Gainesville, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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