Congenital spherocytic anemia

Alternative names
Hereditary spherocytosis; Spherocytosis

Definition
Congenital spherocytic anemia is a disorder of the red blood cell membrane that leads to sphere-shaped red blood cells, and chronichemolytic anemia (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 cell membrane so that the affected cells have a smaller surface area for their volume than normal red blood cells. The cells are less resistant to stresses and rupture easily. The anemia varies in its severity. In severe cases the disorder may be detected in early childhood, or in mild cases it may go unnoticed until later in adult life.

This disorder is most common in people of northern European descent but has been found in all races. Jaundice and pallor (pale coloring) may be noted in infants, and the spleen is enlarged in most cases. After the spleen is removed, the life span of the red blood cell returns to normal. A family history of spherocytosis increases the risk for this disorder.

Symptoms

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

Signs and tests

     
  • Physical examination reveals enlarged spleen.  
  • Elevated reticulocyte count.  
  • Blood smear shows spherocytes.  
  • Complete blood count shows anemia.  
  • Osmotic fragility and incubated fragility test.  
  • Coombs’ test - direct is negative.  
  • Coombs’ test - indirect is negative.  
  • Elevated bilirubin.  
  • Elevated LDH.

Treatment

Splenectomy (surgical removal of the spleen) cures the anemia of spherocytosis. Although the abnormal cell defect persists, the red 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 adult life, splenectomy may not be necessary.

Splenectomy should be delayed in children until the age of 5 to prevent unnecessary infection. Pneumococcal immunization (vaccine) is given prior to the surgery. Folic acid supplementation can be given to children.

Expectations (prognosis)
This outcome is usually good with treatment.

Complications

     
  • Development of gallstones from the pigment derived from the destroyed red blood cells  
  • Aplastic crises (severe decrease in red blood cell production) caused by a viral infection

Calling your health care provider
Call for an appointment with your health care provider if symptoms worsen, do not improve with treatment, or if new symptoms develop.

Prevention
This is an inherited disorder and may not be preventable. Awareness of risk, such as a family history of the disorder, may allow early diagnosis and treatment.

Johns Hopkins patient information

Last revised: December 5, 2012
by David A. Scott, M.D.

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