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What is Spherocytosis?

Mary McMahon
Updated Mar 03, 2024
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Spherocytosis is an inherited blood disorder where the red blood cells are misshapen, leading to an increased rate of breakdown and anemia for the patient as the supply of red blood cells is depleted. It is a dominant trait and can manifest in varying degrees of intensity, depending on the precise combination of genes a person inherits. There are treatment options available, although it is not possible to completely cure the disease, as it is the result of an innate genetic problem with the coding the body uses to produce red blood cells.

This disorder is sometimes termed a cell membrane disorder, because it involves errors in the proteins used to make the membrane of red blood cells. In healthy individuals, red blood cells are normally shaped rather like a disc with raised edges, a shape sometimes compared to that of a doughnut with a filled center. In patients with spherocytosis, the red blood cells are spherical and the surface area of the cell is small, making the cells prone to rupture.

When the spleen encounters the round cells, it thinks they are diseased and destroys them. This can lead to anemia, as the body cannot produce red blood cells as quickly as the patient's spleen destroys them. People with spherocytosis can develop jaundice and enlargement of the spleen. They may also feel fatigued and weak as a result of anemia and can enter a medical crisis if the red blood cell count gets low enough.

Treatment for spherocytosis can include dietary supplements, as well as splenectomy, removal of the spleen. This procedure will halt the breakdown of red blood cells, but can pose a risk to the patient, especially in young children. Doctors may recommend waiting on removal of the spleen as long as possible, only taking the organ out if it is clearly medically necessary. After surgery, the patient should experience an improvement in symptoms. The misshapen cells will still be present, but the anemia will resolve.

People with a family history of spherocytosis may pass on defective genes to their children even if they do not have the condition themselves. Like other genetic conditions, although it is associated with a specific gene, a complex series of interactions can be involved and people may carry deleterious genes with a potential for causing blood disorders without being aware of it. Sometimes, these genes combine in unfortunate ways and cause unusually severe disorders.

The Health Board is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a The Health Board researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

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Mary McMahon
Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

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