Resumo

SCHEPS, Karen G  e  VARELA, Viviana. Regulación de expresión de genes de la familia de β-globina humana, útil en la búsqueda de nuevos blancos terapéuticos para tratamiento de hemoglobinopatías. Medicina (B. Aires) [online]. 2016, vol.76, n.6, pp.383-389. ISSN 0025-7680.

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 γ-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.

Palavras-chave : Hb F; β-globin cluster; Genetics; Epigenetics.

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