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On estime à 300 millions le nombre de personnes dans le monde reconnues comme porteuses de l'hémoglobine S (Hb S), une maladie résultant de la substitution de l'acide glutamique par la valine en position 6 du gène de la β-globine sur le bras court du chromosome 11, caractérisée par l'héritage d'un gène normal de l'hémoglobine A d'un parent et d'un gène muté anormal de l'autre parent (AS), par opposition aux individus homozygotes chez lesquels les deux gènes mutés sont présents (SS). .
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