Congenital spherocytic anemia Health Article

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. 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.

Symptoms

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

Signs and tests

• 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

Treatment

Surgery to remove the spleen (splenectomy) cures the anemia of spherocytosis. Although the abnormal cell defect continues, the red blood cell life span returns to normal.

Families with a history of spherocytosis should have their children screened for this disorder. In mild cases discovered in adults, splenectomy may not be necessary.

Children should wait until age 5 to have splenectomy because of the infection risk. Children are given a pneumonia vaccine (pneumococcal immunization) before the surgery, and also may receive folic acid supplements.

Expectations (prognosis)

This outcome is usually good with treatment.

Complications

• Development of gallstones from the pigment that comes from the destroyed red blood cells
• Much lower red blood cell production (aplastic crises) caused by a viral infection

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.