• Spherocytosis

    (Congenital Spherocytic Anemia; Hereditary Spherocytosis)

    Definition

    Spherocytosis is a condition that causes an abnormality in the red blood cell membrane. While healthy blood cells are shaped like flattened, indented disks, these abnormal membranes lead to sphere-shaped red blood cells, and the premature breakdown of those cells.
    Red blood cells suffering from spherocytosis are smaller, rounder in shape, and more fragile than healthy red blood cells. The rounded shape causes the red blood cells to be caught in the spleen, where they break down.
    Spherocytosis occurs in all races, but is most common in people of northern European descent.
    Spherocytosis cases may be very mild, with minor symptoms, or very severe with symptoms that quickly surface. These symptoms may occur after certain types of infections. Severe cases may be diagnosed in childhood, while those with mild symptoms may not be diagnosed until into adulthood.
    With treatment, symptoms can be controlled.
    Healthy Red Blood Cells
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    Causes

    Spherocytosis is a hereditary condition caused by genes inherited from the parents.

    Risk Factors

    A risk factor is something that increases your chance of getting a disease or condition.
    The following factors increase your chance of developing spherocytosis:
    • Having a family member with spherocytosis

    Symptoms

    Symptoms include:
    • Jaundice
    • Pallor
    • Shortness of breath
    • Fatigue
    • Weakness
    • In children, irritability and moodiness
    • Hemolytic anemia
    • Gallstones

    Diagnosis

    Your doctor will ask about your symptoms and medical history, and perform a physical exam.
    Tests may include the following:
    • Examination of the spleen
    • Blood tests
    • Liver function tests
    • Osmotic and incubated fragility tests to diagnose hereditary spherocytosis
    • Coombs' Test—an antiglobulin test to examine red blood cell antibodies

    Treatment

    Talk with your doctor about the best treatment plan for you. Treatment options include:

    Folic Acid Supplementation

    Folic acid 1 mg daily and consideration for blood transfusions are recommended during periods of severe anemia .

    Surgery

    Surgical removal of the spleen can cure the anemia. The abnormal shape of blood cells remain, but the blood cells are no longer destroyed in the spleen.
    Currently, meningococcal , Haemophilus , and pneumococcal vaccines are administered several weeks before splenectomy. Lifetime penicillin prophylaxis is recommended after surgery to prevent dangerous infections. The surgery is not recommended for children under the age of five. There is a lifetime risk of serious and potentially life threatening infections.
    Currently, meningococcal , Haemophilus , and pneumococcal vaccines are administered several weeks before splenectomy. Lifetime penicillin prophylaxis is recommended after surgery to prevent dangerous infections. The surgery is not recommended for children under the age of five. There is a lifetime risk of serious and potentially life threatening infections.

    Prevention

    Because spherocytosis is an inherited condition, it is not possible to prevent the disease. Regular screening of individuals at high risk, however, can prevent the risk of complications of the disease with early treatment.

    RESOURCES

    Blood DisordersCenters for Disease Control and Prevention http://www.cdc.gov/ncbddd/blooddisorders/index.html/

    Health Canada http://www.hc-sc.gc.ca/index%5Fe.html/

    CANADIAN RESOURCES

    Health Canada http://www.hc-sc.gc.ca/index%5Fe.html/

    Public Health Agency of Canada http://www.phac-aspc.gc.ca/chn-rcs/index-eng.php/

    References

    Baylor College of Medicine. Hereditary spherocytosis. Baylor College of Medicine website. Available at: http://www.bcm.edu/pediatrics/documents/4112.pdf . Accessed June 27, 2007.

    Delaunay J. The molecular basis of hereditary red blood cell membrane disorders. Blood Rev . 2007;21:1-20.

    DynaMed Editorial Team. Hereditary spherocytosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated February 2, 2010. Accessed November 11, 2010.

    Mayo Clinic. Treatment of anemia. Mayo Clinic website. Available at: http://www.mayoclinic.org/anemia/index.html . Accessed June 27, 2007.

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