Hereditary elliptocytosis

Feb 20, 2005 Viewed: 648

Alternative names
Elliptocytosis - hereditary

Definition
Hereditary elliptocytosis is an inherited disorder in which the red blood cells are elliptical in shape.

Causes, incidence, and risk factors
Elliptocytosis is inherited, usually as an autosomal dominant trait, affecting approximately 1 in every 4,000 people. In mild cases, fewer than 15% of red blood cells are elliptical. Elliptocytosis is frequently harmless, although some people may experience hemolytic crises where the red blood cells rupture, releasing their hemoglobin. Affected individuals can develop anemia, jaundice, and gallstones.

Symptoms

     
  • A family history of hereditary elliptocytosis  
  • Prolonged jaundice in the newborn  
  • Jaundice (not in the newborn)  
  • Fatigue  
  • Shortness of breath

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

The following tests may help diagnose the condition:

     
  • A CBC (complete blood count) may show anemia and/or cell destruction.  
  • A smear of the blood may show elliptical red blood cells.  
  • Bilirubin may be elevated.  
  • LDH may be elevated.  
  • Cholecystogram (x-ray of gallbladder) may show gallstones.

Treatment
There is no treatment needed for the disorder unless there are hemolytic crises. Surgical removal of the spleen may decrease red blood cell rupture.

Expectations (prognosis)
The majority of individuals with hereditary elliptocytosis have no problems, and they are unaware of their condition.

Complications

     
  • Hemolytic crisis  
  • Anemia  
  • Jaundice  
  • Gallstones

Calling your health care provider
Call for an appointment with your health care provider if prolonged jaundice occurs, or if you develop symptoms of anemia or gallstones.

Prevention
Genetic counseling may be appropriate for prospective parents. However, the majority of individuals with hereditary elliptocytosis are unaware of any problems.

Johns Hopkins patient information

Last revised: December 8, 2012
by Brenda A. Kuper, M.D.

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