Hereditary elliptocytosis

Red blood cells, elliptocytosis

Blood cells

Hereditary elliptocytosis

Definition:

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

Alternative Names:

Elliptocytosis - hereditary

Causes, incidence, and risk factors:

Elliptocytosis is inherited, usually as an autosomal dominant trait with an incidence of approximately 1 in 4000 people. In mild cases, fewer than 15% of the red cells appear in this form in the blood. Elliptocytosis is frequently benign, however, some affected people may experience hemolytic crises where the red blood cells rupture releasing their hemoglobin. Affected individuals can develop anemia, jaundice, and gallstones (cholelithiasis).

Symptoms:

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

Signs and tests:

Examination by your health care provider may occasionally show an enlarged spleen (splenomegaly).

Tests:

A CBC may show anemia and (or) hemolysis.
A peripheral 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 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:

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.

Review Date: 10/8/2001
Reviewed By: Rebecca Elstrom, M.D., University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2003 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.