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Hereditary elliptocytosis

 

Definition

Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped.

See also:

Alternative Names

Elliptocytosis - hereditary

Causes

Elliptocytosis affects about 1 in every 2,500 people of northern European heritage. It is more common in people of African and Mediterranean descent. You are more likely to develop this condition if someone in your family has had it.

Symptoms
  • Fatigue
  • Shortness of breath
  • Yellow skin and eyes (jaundice) - may persist for a long time in a newborn
Signs and tests

An examination by your health care provider may occasionally show an enlarged spleen.

The following tests may help diagnose the condition:

  • Bilirubin level may be high.
  • Blood smear may show elliptical red blood cells.
  • Complete blood count (CBC) may show anemia or signs of red blood cell destruction.
  • Lactate dehydrogenase level may be high.
  • Ultrasound of the gallbladder may show gallstones.
Support Groups

Expectations (prognosis)

Most persons with hereditary elliptocytosis have no problems, and are unaware of their condition.

Calling your health care provider

Call for an appointment with your health care provider if you have jaundice that doesn't go away or symptoms of anemia or gallstones.

Complications

Elliptocytosis is frequently harmless. In mild cases, fewer than 15% of red blood cells are elliptical-shaped. However, some people may have crises in which the red blood cells rupture, especially if they have a viral infection. Persons with this disease can develop anemia, jaundice, and gallstones.

Treatments

There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Surgery to remove the spleen may decrease the rate of red blood cell damage.

Prevention

Genetic counseling may be appropriate for persons with a family history of this disease who wish to become parents.

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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