Pleiotropic and epistatic effects in sickle cell anemia.

Abstract excerpt

Sickle cell anemia is the first monogenic disease ever described, and it became the paradigm for a disease traceable to a single mutation in a single gene. Pauling's concept of "molecular disease," based on this discovery, opened a new chapter in the history of medicine. Nevertheless, at the phenotypic level, sickle cell anemia is not a monogenic disease; it is a multigenic disease. The latter is the product of...

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