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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 .
Hereditary spherocytosis
Congenital spherocytic anemia is a disorder of the surface layer (membrane) of red blood cells. It leads to red blood cells that are shaped like sph...
Hereditary ovalocystosis
Hereditary ovalocytosis is a rare condition passed down through families (inherited). The blood cells are oval-shaped instead of round. It is a for...
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 .
Enlarged spleen
Splenomegaly is a larger-than-normal spleen. The spleen is an organ in the upper left part of the belly.
The following test results may help diagnose the condition:
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Bilirubin
level may be high.
Bilirubin
The bilirubin blood test measures the level of bilirubin in the blood. Bilirubin is a yellowish pigment found in bile, a fluid made by the liver. Bi...
ImageRead Article Now Book Mark Article - Blood smear may show elliptical red blood cells.
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Complete blood count
(CBC) may show anemia or signs of red blood cell destruction.
Complete blood count
A complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...
ImageRead Article Now Book Mark Article - 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.
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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
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Blood cells - illustration
Blood is comprised of red blood cells, platelets, and various white blood cells.
Blood cells
illustration
-
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 - illustration
Blood is comprised of red blood cells, platelets, and various white blood cells.
Blood cells
illustration
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.
