Elliptocytosis - hereditary

Definition

Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are oval-shaped.

See also: Hereditary spherocytosis

Alternative Names

Causes

Elliptocytosis affects about 1 in every 4,000-5,000 people. It is most 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

• Long-term jaundice in the newborn
• Jaundice in persons other than a newborn
• Fatigue
• Shortness of breath

Exams and Tests

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

The following tests may help diagnose the condition:

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

Treatment

There is no treatment needed for the disorder unless red blood cells rupture. Surgery to remove the spleen may decrease red blood cell rupture.

Outlook (Prognosis)

Most persons with hereditary elliptocytosis have no problems, and are unaware of their condition.

Possible Complications

Elliptocytosis is frequently harmless. In mild cases, fewer than 15% of red blood cells are oval-shaped. However, some people may have crises in which the red blood cells rupture, releasing their hemoglobin. Persons with this disease can develop anemia, jaundice, and gallstones

When to Contact a Medical Professional

Call for an appointment with your health care provider if you have jaundice that doesn't go away or symptoms of anemia or gallstones.

Prevention

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

Gallagher PG. Hereditary elliptocytosis: spectrin and protein 4.1R. Semin Hematol. 2004 Apr; 41(2): 142-64.

Kasper D, Braunwald E, Fauci A, et al. Harrison's Principals of Internal Medicine. 16th edition [online version]. New York, NY: McGraw Hill; 2005.

Hoffman R, Benz EJ, Shattil SS, et al. Hematology: Basic Principles and Practice. 4th ed. Orlando, Fl: Churchill Livingstone; 2005.