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Switching from fetal to adult hemoglobin

The switch from fetal to adult hemoglobin relies on repression or silencing of the upstream γ-globin gene, but identification of the transcriptional repressors that bind to the sites at which a cluster of naturally occurring variants associated with HPFH (hereditary persistence of fetal hemoglobin) are found has been elusive. A new study provides mechanistic evidence for the direct binding of BCL11A and ZBTB7A, two previously identified γ-globin gene repressors.

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Fig. 1: Point mutations in γ-globin gene promoters disrupt binding of transcriptional repressors, resulting in elevated fetal hemoglobin levels in adulthood.


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Correspondence to Swee Lay Thein.

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Wang, X., Thein, S. Switching from fetal to adult hemoglobin. Nat Genet 50, 478–480 (2018).

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