(Congenital Spherocytic Anemia; Hereditary Spherocytosis)
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.
For some people 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.
Copyright © Nucleus Medical Media, Inc.http://services.epnet.com/getimage.aspx?imageiid=72977297si2037.jpgsi2037.jpgNULLjpgsi2037.jpgNULL\\hgfiler01a\intellect\images\si2037.jpgNULL12NULL2008-11-072823907297_222673261400Copyright © Nucleus Medical Media, Inc.
Spherocytosis is caused by changes in genes. The changes are passed from the parents to children.
Spherocytosis 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 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
- In children, irritability and moodiness
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.
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.
Blood transfusions can help add more healthy RBCs to the body for people who have more severe forms of it.When spherocytosis is very bad surgery may be done to remove the spleen. The spleen is an organ that is behind the stomach and gets rid of RBCs. The RBCs can live longer if it is removed. This can help fix the anemia. Removing the spleen can cause other problems that should be discussed with the doctor.
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.
- Hereditary spherocytosis. EBSCO DynaMed website. Available at: http://www.dynamed.com/condition/red-blood-cell-membrane-disorders.
- Hereditary spherocytosis. GARD—Genetic and Rare Diseases Information Center website. Available at: https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis.
- Hereditary spherocytosis. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis.
- What is hereditary spherocytosis? Cincinnati Children’s Hospital website. Available at: https://www.cincinnatichildrens.org/health/s/spherocytosis.
- Zamora, E.A. and Schaefer, C.A. Hereditary spherocytosis. StatPearls, 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK539797/.
- Marcin Chwistek, MD
(C) Copyright 2023 EBSCO Information Services
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
To send comments or feedback to our Editorial Team regarding the content please email us at email@example.com.