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Congenital spherocytic anemia

Hereditary spherocytosis; Spherocytosis; Hemolytic anemia - spherocytic

 

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).

Causes

 

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

 

Exams 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 or specialized testing to evaluate for the red blood cell defect
  • Reticulocyte count

 

Treatment

 

Surgery to remove the spleen (splenectomy) cures the anemia but does not 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. They also should receive folic acid supplements. Additional vaccines may be needed based on the person's history.

 

Outlook (Prognosis)

 

This outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.

 

Possible Complications

 

Complications may include:

  • Gallstones
  • Much lower red blood cell production (aplastic crisis) caused by a viral infection, which can make anemia worse

 

When to Contact a Medical Professional

 

Call your health care provider if:

  • Your symptoms get worse.
  • Your symptoms do not improve with new treatment.
  • 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.

 

 

References

Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2013:chap 43.

Klatt EC, Kumar V. Hematopathology of red blood cells and bleeding disorders. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 14.

 
  • Red blood cells, normal

    Red blood cells, normal - illustration

    This photomicrograph shows normal red blood cells (RBCs) as seen in the microscope after staining.

    Red blood cells, normal

    illustration

  • Red blood cells, spherocytosis

    Red blood cells, spherocytosis - illustration

    Spherocytosis is a hereditary disorder of the red blood cells (RBCs), which may be associated with a mild anemia. Typically, the affected RBCs are small, spherically shaped, and lack the light centers seen in normal, round RBCs.

    Red blood cells, spherocytosis

    illustration

  • Blood cells

    Blood cells - illustration

    Blood is comprised of red blood cells, platelets, and various white blood cells.

    Blood cells

    illustration

    • Red blood cells, normal

      Red blood cells, normal - illustration

      This photomicrograph shows normal red blood cells (RBCs) as seen in the microscope after staining.

      Red blood cells, normal

      illustration

    • Red blood cells, spherocytosis

      Red blood cells, spherocytosis - illustration

      Spherocytosis is a hereditary disorder of the red blood cells (RBCs), which may be associated with a mild anemia. Typically, the affected RBCs are small, spherically shaped, and lack the light centers seen in normal, round RBCs.

      Red blood cells, spherocytosis

      illustration

    • Blood cells

      Blood cells - illustration

      Blood is comprised of red blood cells, platelets, and various white blood cells.

      Blood cells

      illustration

    A Closer Look

     

      Self Care

       

        Tests for Congenital spherocytic anemia

         

           

          Review Date: 2/1/2016

          Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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