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Red blood cells, normal
Red blood cells, normal


Red blood cells, spherocytosis
Red blood cells, spherocytosis


Blood cells
Blood cells


Congenital spherocytic anemia

Definition:

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 and adults should be given a pneumococcal vaccine before spleen removal surgery, and also may receive folic acid supplements. Additional vaccines may be indicated based on the patient’s history.



Support Groups:



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:

Schwartz RS. Autoimmune and intravascular hemolytic anemias In: Goldman L, Schafer AI, eds. Cecil Medicine. 24th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 163.




Review Date: 2/8/2012
Reviewed By: Todd Gersten, MD, Hematology/Oncology, Palm Beach Cancer Institute, West Palm Beach, FL. Review provided by VeriMed Healthcare Network; Linda J. Vorvick, MD, Medical Director and Director of Didactic Curriculum, MEDEX Northwest Division of Physician Assistant Studies, Department of Family Medicine, UW Medicine, School of Medicine, University of Washington. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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