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Congenital spherocytic anemia

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 spheres, and premature breakdown of red blood cells (hemolytic anemia).

  • Alternative Names

    Hereditary spherocytosis; Spherocytosis

  • Causes, incidence, and risk factors

    This disorder is caused by a defective gene. The defect results in an abnormal red blood cell membrane. The affected cells have a smaller surface area for their volume than normal red blood cells, and can break open easily. Having a family history of spherocytosis increases the risk for this disorder.

    The anemia can vary from mild to severe. In severe cases the disorder may be found in early childhood. In mild cases it may go unnoticed until adulthood.

    This disorder is most common in people of northern European descent, but it has been found in all races.

  • Symptoms

    Infants may have yellowing of the skin and eyes (jaundice) and pale coloring (pallor).

    Other symptoms may include:

  • Signs and tests

    In most cases, the spleen is enlarged.

    Laboratory tests can help diagnose this condition. Tests may include:

  • Treatment

    Surgery to remove the spleen (splenectomy) cures the anemia but doesn't correct the abnormal cell shape.

    Families with a history of spherocytosis should have their children screened for this disorder.

    Children should wait until age 5 to have splenectomy because of the infection risk. In mild cases discovered in adults, it may not be necessary to remove the spleen.

    Children are given a pneumonia vaccine (pneumococcal immunization) before spleen removal surgery, and also may receive folic acid supplements.

  • Expectations (prognosis)

    This outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.

  • Complications
    • Gallstones
    • Much lower red blood cell production (aplastic crisis) caused by a viral infection, which can make anemia worse
  • Calling your health care provider

    Call your health care provider for an appointment if your symptoms get worse, do not improve with treatment, or if you develop new symptoms.

  • Prevention

    This is an inherited disorder and may not be preventable. Being aware of your risk, such as a family history of the disorder, may help you get diagnosed and treated early.

  • References

    Golan DE. Hemolytic anemias: red cell membrane and metabolic disorders. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 165.

Review Date: 11/8/2008

Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and James R. Mason, MD, Oncologist, Director, Blood and Marrow Transplantation Program and Stem Cell Processing Lab, Scripps Clinic, Torrey Pines, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional 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. © 1997- 2014 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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