Spherocytosis is blood disorder that causes red blood cells to have a weakened cell membrane and spherical in shape. These abnormal red blood cells are destroyed faster and have a shorter lifetime than normal red blood cells. This leads to a low level of red blood cells in the body (anemia).
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What are the signs and symptoms of spherocytosis?
Symptoms of spherocytosis vary and can range from mild to severe. Spherocytosis can be diagnosed at any point from early childhood to adulthood. The most common sign of spherocytosis is anemia.
Symptoms of spherocytosis include:
- Paleness
- Tiredness
- Jaundice
- Shortness of breath
- Fast heartbeat
- Stomach pain
What causes spherocytosis?
Spherocytosis is caused by genetic mutations that lead to defects in the cell membrane of red blood cells. Most cases of spherocytosis are hereditary, but a small number of cases may be caused by random genetic mutations.
How is spherocytosis treated?
There is no known cure for spherocytosis. Treatment is used to manage symptoms and may include surgical or non-surgical options. Some mild cases of spherocytosis may not require any treatment.
Our experienced team at Connecticut Children’s will work with your family to discuss your child’s treatment options.
- Folic acid supplementation
- Blood transfusions to help with severe anemia
- In severe cases, your child’s doctor may recommend a splenectomy (removal of the spleen) or a partial splenectomy (removal of part of the spleen). Since the abnormal red blood cells are damaged and destroyed in the spleen, a splenectomy or partial splenectomy can increase the lifetime of red blood cells. This can increase the level of red blood cells in the body. Whenever possible, our surgical team at Connecticut Children’s performs this surgery using minimally invasive (laparoscopic) techniques.