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Si stima che nel mondo ci siano circa 300 milioni di persone riconosciute come portatrici di emoglobina S (Hb S), una condizione derivante dalla sostituzione dell'acido glutammico con la valina in posizione 6 del gene della β-globina sul braccio corto del cromosoma 11, caratterizzata dall'ereditarietà di un gene normale dell'emoglobina A da un genitore e di un gene anormale mutato dall'altro genitore (AS), a differenza degli individui omozigoti in cui sono presenti entrambi i geni mutati (SS). .
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