(Congenital Spherocytic Anemia; Hereditary Spherocytosis)
Spherocytosis is an illness that causes a problem with red blood cells. The membrane or wall around the red blood cell is not normal. It changes the shape of red blood cells and makes them break down earlier than they should. In some it is mild, and others can have severe illness. Spherocytosis can cause a shortage of red blood cells called anemia.
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Spherocytosis is caused by changes in genes. The changes are passed down from the parents.
Spherocytosis occurs is most common in people with northern European descent. However, it can happen in anyone. Having a family member with spherocytosis will increase the risk of having it.
Symptoms may be mild and not apparent until adulthood. Others may have more serious symptoms that appear quickly. These symptoms may occur after certain types of infections.
Spherocytosis may cause:
- Yellowing of the skin and/or whites of the eyes—known as jaundice
- Shortness of breath
- In children, irritability and moodiness
You will be asked about your symptoms and past health. A physical exam will be done.
Blood tests can help to make a diagnosis. Genetic testing may be helpful for some.
Treatment may include:
Folic Acid Supplements
Folic acid helps the body make red blood cells. Supplements may be needed if the number of healthy red blood cells drop too low.
The abnormal red blood cells get trapped in the spleen. This is where the cells get destroyed and cause anemia. Surgery may be done to remove the spleen. There will still be some abnormal red blood cells, but the anemia will be cured because blood cells are no longer destroyed in the spleen.
The change in genes cannot be prevented. Regular screening for those at high risk can allow early treatment. It may prevent later problems.
Centers for Disease Control and Prevention
National Heart, Lung, and Blood Institute
The College of Family Physicians of Canada
Delaunay J. The molecular basis of hereditary red blood cell membrane disorders. Blood Rev. 2007;21(1):1-20.
Hereditary spherocytosis. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T114061/Hereditary-spherocytosis. Updated June 24, 2015. Accessed February 7, 2020.
Hereditary spherocytosis. GARD—Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis. Updated September 26, 2017. Accessed February 7, 2020.
Hereditary spherocytosis. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis. Updated September 26, 2017. Accessed February 7, 2020.
Last reviewed October 2019 by EBSCO Medical Review Board Marcin Chwistek, MD Last Updated: 7/17/2020