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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's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 161.

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

 
  • 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

    Tests for Hereditary ovalocytosis

     

       

      Review Date: 2/1/2016

      Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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