Ontology highlight
ABSTRACT:
SUBMITTER: Heshusius S
PROVIDER: S-EPMC8748495 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Heshusius Steven S Grech Laura L Gillemans Nynke N Brouwer Rutger W W RWW den Dekker Xander T XT van IJcken Wilfred F J WFJ Nota Benjamin B Felice Alex E AE van Dijk Thamar B TB von Lindern Marieke M Borg Joseph J van den Akker Emile E Philipsen Sjaak S
Scientific reports 20220110 1
Haploinsufficiency for the erythroid-specific transcription factor KLF1 is associated with hereditary persistence of fetal hemoglobin (HPFH). Increased HbF ameliorates the symptoms of β-hemoglobinopathies and downregulation of KLF1 activity has been proposed as a potential therapeutic strategy. However, the feasibility of this approach has been challenged by the observation that KLF1 haploinsufficient individuals with the same KLF1 variant, within the same family, display a wide range of HbF lev ...[more]