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Cis-element variation in normal and disease states. Mutational generation of a GATA motif interferes with α-globin transcription leading to α-thalassemia [133]. Natural variation in a GATA-1-binding region of the BCL11A locus as a determinant of γ-globin expression [132▪▪]. Mutational disruption of a GATA-1 motif reduces expression of ALAS2, which encodes a critical heme biosynthetic enzyme [134▪].
