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Hereditary elliptocytosis

Elliptocytosis - hereditary

 

Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis.

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

 

Symptoms may include:

  • 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 people 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. This is more like to happen when they have a viral infection. People with this disease can develop anemia, jaundice, and gallstones.

 

When to Contact a Medical Professional

 

Call provider if you have jaundice that does not go away or symptoms of anemia or gallstones.

 

Prevention

 

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

 

 

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

 
  • Red blood cells, elliptocytosis

    Red blood cells, elliptocytosis - illustration

    Elliptocytosis is a hereditary disorder of the red blood cells (RBCs). In this condition, the RBCs assume an elliptical shape, rather than the typical round shape.

    Red blood cells, elliptocytosis

    illustration

  • Blood cells

    Blood cells - illustration

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

    Blood cells

    illustration

    • Red blood cells, elliptocytosis

      Red blood cells, elliptocytosis - illustration

      Elliptocytosis is a hereditary disorder of the red blood cells (RBCs). In this condition, the RBCs assume an elliptical shape, rather than the typical round shape.

      Red blood cells, elliptocytosis

      illustration

    • Blood cells

      Blood cells - illustration

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

      Blood cells

      illustration

    Tests for Hereditary elliptocytosis

     

       

      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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