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).
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.
Infants may have yellowing of the skin and eyes (jaundice) and pale coloring (pallor).
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.
This outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.
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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