Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known gamma- gene mutations associated with hereditary persistence of fetal hemoglobin.
Amato A, Cappabianca MP, Perri M, Zaghis I, Grisanti P, Ponzini D, Di Biagio P.
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia.
Zeng S, Lei S, Qu C, Wang Y, Teng S, Huang P.
Hum Genet. 2023 Dec;142(12):1677-1703. doi: 10.1007/s00439-023-02610-9. Epub 2023 Oct 25.
PMID:37878144
Base-editing-mediated dissection of a gamma-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.
Antoniou P, Hardouin G, Martinucci P, Frati G, Felix T, Chalumeau A, Fontana L, Martin J, Masson C, Brusson M, Maule G, Rosello M, Giovannangeli C, Abramowski V, de Villartay JP, Concordet JP, Del Bene F, El Nemer W, Amendola M, Cavazzana M, Cereseto A, Romano O, Miccio A.
Nat Commun. 2022 Nov 4;13(1):6618. doi: 10.1038/s41467-022-34493-1.
PMID:36333351
Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian deltabeta-thalassemia, by BCL11A and SOX6-targeting microRNAs.
Fornari TA, Lanaro C, Albuquerque DM, Ferreira R, Costa FF.
Exp Biol Med (Maywood). 2017 Feb;242(3):267-274. doi: 10.1177/1535370216668052. Epub 2016 Oct 4.