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Spherocytosis is an inherited blood disorder where red blood cells are misshapen, leading to anemia. Treatment options include dietary supplements and splenectomy, but the disease cannot be cured due to an inborn genetic problem. It is a dominant trait that can manifest in varying degrees of intensity.
Spherocytosis is an inherited blood disorder in which red blood cells are misshapen, leading to an increased breakdown rate and anemia for the patient when the supply of red blood cells becomes depleted. It is a dominant trait and can manifest itself in varying degrees of intensity, depending on the precise combination of genes a person inherits. Treatment options are available, although it is not possible to cure the disease completely, as it is the result of an inborn genetic problem with the coding that the body uses to make red blood cells.
This disorder is sometimes called a cell membrane disorder, because it involves errors in the proteins used to make red blood cell membranes. In healthy individuals, red blood cells are normally shaped like a disc with raised edges, a shape sometimes likened to that of a donut with a filled center. In patients with spherocytosis, red blood cells are spherical and the cell surface area is small, making the cells prone to rupture.
When the spleen encounters 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 may develop jaundice and an enlarged spleen. They may also feel fatigued and weak from anemia and may go into a medical crisis if the red blood cell count gets low enough.
Treatment for spherocytosis may include dietary supplements, as well as splenectomy, removal of the spleen. This procedure will stop the red blood cells from breaking down, but can pose a risk to the patient, especially in young children. Doctors may recommend waiting for the spleen to be removed as long as possible, only removing the organ if it’s clearly medically necessary. After the surgery, the patient should feel an improvement in symptoms. The misshapen cells will still be present, but the anemia will resolve.
People with a family history of spherocytosis can pass defective genes to their children even if they don’t have the condition. Like other genetic conditions, although it is associated with a specific gene, a complex series of interactions can be involved, and people can carry deleterious genes with the potential to cause blood disorders without being aware of them. Sometimes, these genes combine in unfortunate ways and cause unusually severe ailments.
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