Hereditary spherocytosis; Spherocytosis
Definition of 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 ().
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.
Infants may have yellowing of the skin and eyes (jaundice) and pale coloring (pallor).
Signs and tests
In most cases, the spleen is enlarged.
Surgery to remove the spleen (splenectomy) cures the anemia but doesn’t correct the abnormal cell shape.
This outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.
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. – 3/28/2010