A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies.

ABSTRACT: Throughout the past decades, the search for a treatment for severe hemoglobinopathies has gained increased interest within the scientific community. The discovery that ɤ-globin expression from intact HBG alleles complements defective HBB alleles underlying β-thalassemia and sickle cell disease, has provided a promising opening for research directed at relieving ɤ-globin repression mechanisms and, thereby, improve clinical outcomes for patients. Various gene editing strategies aim to reverse the fetal-to-adult hemoglobin switch to up-regulate ɤ-globin expression through disabling either HBG repressor genes or repressor binding sites in the HBG promoter regions. In addition to these HBB mutation-independent strategies involving fetal hemoglobin (HbF) synthe

SUBMITTER: Zittersteijn HA 

PROVIDER: S-EPMC8525365 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature