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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 continue for a long time in a newborn

Exams and Tests

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

The following test results 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.

Treatment

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.

Outlook (Prognosis)

Most persons with hereditary elliptocytosis have no problems. They often do not know they have the condition.

Possible Complications

Elliptocytosis is often 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.

When to Contact a Medical Professional

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

Prevention

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

References

Gallagher PG. Hemolytic anemias: red cell membrane and metabolic defects. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 164.

Review Date:2/24/2014
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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Health
Outcome Data

No data available for this condition/procedure.

Read More

Anemia

Autosomal dominant

Gallstones *

Hemoglobin


* Has Related Health Outcome Information

Health Encyclopedia

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