What Determines Severity in Sickle-Cell Disease?

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Abstract
A paradox has always troubled investigators of sickle-cell anemia. Although this disorder has been defined at the level of a single, specific nucleotide change in the genomic DNA and the corresponding amino acid substitution in the β-chain of hemoglobin, the clinical manifestations of sickle-cell anemia are more diverse than those of most other genetic diseases. In fact, the spectrum of severity in this disease is as broad as that in many of the "polymorphic" diseases, such as diabetes.Attempts to explain this wide range of severity have been thwarted by the lack of concordance between hematologic measurements and clinical events . . .

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