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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 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

Spherocytosis occurs in all races, but is most common in people of northern European descent. Having a family member with spherocytosis also increases your risk.

Symptoms

Spherocytosis may cause:
  • Yellowing of the skin and/or eyes—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. A physical exam will be done.
Tests may include:
  • Examination of the spleen
  • Blood 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 5 years old. 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 5 years old. 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

Centers for Disease Control and Prevention http://www.cdc.gov

National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov

CANADIAN RESOURCES

Health Canada http://www.hc-sc.gc.ca

Public Health Agency of Canada http://www.phac-aspc.gc.ca

References

Baylor College of Medicine. Hereditary spherocytosis. Baylor College of Medicine website. Available at: https://www.bcm.edu/departments/pediatrics/documents/4112.pdf. Accessed September 29, 2014.

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

Hereditary spherocytosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated June 6, 2014. Accessed September 29, 2014.

Revision Information

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