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).

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). In most cases, the spleen is enlarged. After the spleen is removed, the life span of the red blood cell returns to normal.

• Jaundice
• Pallor
• Shortness of breath
• Fatigue
• Weakness
• Irritability in children

• Physical exam reveals enlarged spleen
• Reticulocyte count is elevated
• Blood smear shows spherocytes
• Complete blood count shows anemia
• Osmotic fragility and incubated fragility test are abnormal
• Coombs' test - direct is negative
• Coombs' test - indirect is negative
• Bilirubin is elevated
• LDH is elevated