Spherocytosis is an auto-hemolytic anemia (a disease of the blood) characterized by the production of spherocytes (red blood cells (RBCs)) or erythrocytes that are sphere-shaped rather than bi-concave disk shaped. Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes.
Spherocytosis most often refers to hereditary spherocytosis. This is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, including spectrin, ankyrin, Band 3, or Protein 4.2. Because the cell skeleton has a defect, the blood cell contracts to a sphere, which is its most surface tension efficient and least flexible configuration. Though the spherocytes have a smaller surface area through which oxygen and carbon dioxide can be exchanged, they in themselves perform adequately to maintain healthy oxygen supplies. However, they have a high osmotic fragility--when placed into water, they are more likely to burst than normal red blood cells. These cells are more prone to physical degradation.
A1C tests are also compromised by the disorder and must not be used to measure time-based blood glucose levels. Instead, diabetes related glucose tests are limited to fructosamine, which measures the amount of glucose in the blood over the past three weeks on average. This is a marked contrast to A1C tests that measure blood glucose over an average span of three months.
They are most commonly found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive direct Coombs test and the latter would not. The misshapen but otherwise healthy red blood cells are mistaken by the spleen for old or damaged red blood cells and it thus constantly breaks them down, causing a cycle whereby the body destroys its own blood supply (auto-hemolysis).
The term "non hereditary spherocytosis" is occasionally used, albeit rarely.
- A short article from WebMD
- A picture of spherocytes from Medline
- Hereditary Spherocytosis from Medscape
- Robert S. Hillman; Kenneth A. Ault; Henry M. Rinder (2005). Hematology in clinical practice: a guide to diagnosis and management. McGraw-Hill Professional. pp. 146–. ISBN 978-0-07-144035-6. Retrieved 15 November 2010.
- Thoma J, Kutter D, Casel S, et al. (2005). "HbSC hemoglobinopathy suspected by chest x-ray and red blood cell morphology". Acta Clin Belg. 60 (6): 377–82. doi:10.1179/acb.2005.057. PMID 16502600.