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:

• Fatigue
• Irritability
• Shortness of breath
• Weakness

Signs and tests

In most cases, the spleen is enlarged.

Laboratory tests can help diagnose this condition. Tests may include:

• Blood smear to show abnormally shaped cells
• Bilirubin level
• Complete blood count to check for anemia
• Coombs' test
• LDH level
• Osmotic fragility
• Reticulocyte count

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.

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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.