MedlinePlus Medical Encyclopedia: Hereditary elliptocytosis

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Hereditary elliptocytosis

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Red blood cells, elliptocytosis

Blood cells

Alternative names Return to top

Elliptocytosis - hereditary

Definition Return to top

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

Causes, incidence, and risk factors Return to top

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 Return to top

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

Signs and tests Return to top

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 Return to top

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) Return to top

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

Complications Return to top

Hemolytic crisis
Anemia
Jaundice
Gallstones

Calling your health care provider Return to top

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

Prevention Return to top

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

Update Date: 7/31/2003

Updated by: Corey Cutler, M.D., M.P.H., F.R.C.P.C., Department of Medical Oncology, Dana-Farber Cancer Institute; Instructor of Medicine, Harvard University, Boston, MA. Review provided by VeriMed Healthcare Network.

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