Congenital spherocytic anemia

Alternative Names

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.

Symptoms

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

Signs and tests

In most cases, the spleen is enlarged.

Treatment

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

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.

Review

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

Red blood cells, normal
Red blood cells, spherocytosis
Blood cells

ADAM Medical Encyclopedia

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