Monday, June 08, 2009

Current Diagnosis

Dr. Cavalier just called with the results of today's bloodwork. Her iron levels are just below normal, 10.5 (11 is normal). All other counts were in the normal range. However when she looked at blood under a microscope she did find some abnormalities. Her current diagnosis is Spherocytosis. It is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells, or erythrocytes, that are sphere-shaped, rather than bi-concave disk shaped (like a donut). It is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, Because the cell skeleton has a defect, the blood cell contracts to its most surface-tension efficient and least flexible configuration, a sphere. The sphere-shaped red blood cells are known as spherocytes.

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. 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 other blood work will take a couple of weeks and she will call with those results.

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