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Estima-se que existam cerca de 300 milhões de pessoas em todo o mundo reconhecidas como portadoras de hemoglobina S (Hb S), uma doença resultante da substituição do ácido glutâmico pela valina na posição 6 do gene da β-globina no braço curto do cromossoma 11, caracterizada pela herança de um gene normal da hemoglobina A de um progenitor e de um gene mutado anormal do outro progenitor (AS), por oposição aos indivíduos homozigóticos em que ambos os genes mutados estão presentes (SS). .
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