Definition
Spherocytosis is a health problem in which red blood cells (RBCs) are round. Normal RBCs are shaped like a donut. Being round makes the cells weaker. They do not live as long as normal red blood cells.
In some it is mild, and others can have severe illness. Spherocytosis can cause a shortage of RBCs called anemia. This is when the RBCs cannot carry enough oxygen from the lungs to the rest of the body.
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Causes
Spherocytosis is caused by changes in genes. The changes are passed from the parents to children.
Risk Factors
Spherocytosis occurs is most common in people whose families come from northern Europe. It can also happen in anyone.
A person can be at higher risk if they have a family member with it.
Symptoms
Symptoms may be mild and not show up until a person is an adult. Others may have more serious symptoms that appear quickly. Children and babies can also have symptoms. These symptoms may happen after some infections.
A person with spherocytosis may have:
- The skin and/or whites of the eyes turn yellow—known as jaundice
- Pale skin
- Shortness of breath
- Fatigue or weakness
- No appetite
- Gallstones
- In children, irritability and moodiness
Diagnosis
The doctor will ask about symptoms and past health. A physical exam will be done. Be sure to tell the doctor if there is a family history of spherocytosis.
Blood tests can help make a diagnosis. Genetic testing may be helpful for some.
Treatment
The goal of treatment is to manage spherocytosis so it does not cause more health problems. It cannot be cured. Folic acid supplements may be given to help the body make more RBCs.
In more severe cases, blood transfusions can help add more healthy RBCs to the body.
Prevention
The change in genes cannot be prevented. Checking people who are at high risk can help them be treated earlier. That may prevent later problems.
RESOURCES
Centers for Disease Control and Prevention https://www.cdc.gov
National Heart, Lung, and Blood Institute https://www.nhlbi.nih.gov
CANADIAN RESOURCES
Health Canada https://www.canada.ca
The College of Family Physicians of Canada http://www.cfpc.ca
References
Hereditary spherocytosis. EBSCO DynaMed website. Available at: http://www.dynamed.com/condition/red-blood-cell-membrane-disorders. Accessed May 17, 2022.
Hereditary spherocytosis. GARD—Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis. Accessed May 17, 2022.
Hereditary spherocytosis. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis. Accessed May 17, 2022.
What is hereditary spherocytosis? Cincinnati Children’s Hospital website. Available at: https://www.cincinnatichildrens.org/health/s/spherocytosis. Accessed May 17, 2022.
Zamora, E.A. and Schaefer, C.A. Hereditary spherocytosis. StatPearls, 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK539797/. Accessed May 17, 2022.
Revision Information
- Reviewer: EBSCO Medical Review Board Marcin Chwistek, MD
- Review Date: 03/2022
- Update Date: 05/17/2022