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Article

Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype.

Science advances - 1 Feb 2020

Weber Leslie, Frati Giacomo, Felix Tristan, Hardouin Giulia, Casini Antonio, Wollenschlaeger Clara, Meneghini Vasco, Masson Cecile, De Cian Anne, Chalumeau Anne, Mavilio Fulvio, Amendola Mario, Andre-Schmutz Isabelle, Cereseto Anna, El Nemer Wassim, Concordet Jean-Paul, Giovannangeli Carine, Cavazzana Marina, Miccio Annarita

Abstract excerpt

Sickle cell disease (SCD) is caused by a single amino acid change in the adult hemoglobin (Hb) β chain that causes Hb polymerization and red blood cell (RBC) sickling. The co-inheritance of mutations causing fetal γ-globin production in adult life hereditary persistence of fetal Hb (HPFH) reduces the clinical severity of SCD. HPFH mutations in the HBG γ-globin promoters disrupt binding sites for the repressors...

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Identifiers

PMID: 32917636
DOI: 10.1126/sciadv.aay9392
PMCID: PMC7015694

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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