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The size of many of these RBC's is quite small, with lack of the
central zone of pallor. These RBC's are spherocytes. In hereditary
spherocytosis, there is a lack of spectrin, a key RBC cytoskeletal
membrane protein. This produces membrane instability that forces
the cell to the smallest volume--a sphere. In the laboratory, this is
shown by increased osmotic fragility. The spherocytes do not survive
as long as normal RBC's. |
Question: What is the frequency and inheritance pattern for hereditary spherocytosis?
Answer
About 1 in 2000 persons of northern European ancestry are affected, 75% in an autosomal dominant fashion.
