title: [Regulation of the β-globin gene family expression, useful in the search for new therapeutic targets for hemoglobinopathies].
abstract: Different hemoglobin isoforms are expressed during the embryonic, fetal and postnatal stages. They are formed by combination of polypeptide chains synthesized from the α- and β-globin gene clusters. Based on the fact that the presence of high hemoglobin F levels is beneficial in both sickle cell disease and severe thalassemic syndromes, a revision of the regulation of the β-globin cluster expression is proposed, especially regarding the genes encoding the y-globin chains (HBG1 and HBG2). In this review we describe the current knowledge about transcription factors and epigenetic regulators involved in the switches of the β-globin cluster. It is expected that the consolidation of knowledge in this field will allow finding new therapeutic targets for the treatment of hemoglobinopathies.
authors.affiliation: Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina. E-mail: karenscheps@gmail.com.|INIGEM (Instituto de Inmunología, Genética y Metabolismo), CONICET- Universidad de Buenos Aires, Argentina. E-mail: karenscheps@gmail.com.
authors.forename: Karen G
authors.initials: KG
authors.lastname: Scheps
authors.affiliation: Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina.|INIGEM (Instituto de Inmunología, Genética y Metabolismo), CONICET- Universidad de Buenos Aires, Argentina.
authors.forename: Viviana
authors.initials: V
authors.lastname: Varela
mesh_terms: D015870:Gene Expression; D005786:Gene Expression Regulation; D006453:Hemoglobinopathies / Q000235:genetics* / Q000628:therapy; D006801:Humans; D019901:Locus Control Region; D005810:Multigene Family / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D055544:beta-Globins
keywords: Hb F; epigenetics; genetics; β-globin cluster