A cellular reporter system to evaluate endogenous fetal hemoglobin induction and screen for therapeutic compounds.

ABSTRACT: Reactivation of fetal hemoglobin expression alleviates the symptoms associated with β-globinopathies, severe hereditary diseases with significant global health implications due to their high morbidity and mortality rates. The symptoms emerge following the postnatal transition from fetal-to-adult hemoglobin expression. Extensive research has focused on inducing the expression of the fetal γ-globin subunit to reverse this switch and ameliorate these symptoms. Despite decades of research, only one compound, hydroxyurea, found its way to the clinic as an inducer of fetal hemoglobin. Unfortunately, its efficacy varies among patients, highlighting the need for more effective treatments. Erythroid cell lines have been instrumental in the pursuit of both pharmacological and genetic ways to reverse

SUBMITTER: Verheul TCJ 

PROVIDER: S-EPMC11302795 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature