Ontology highlight
ABSTRACT:
SUBMITTER: Satta S
PROVIDER: S-EPMC3084925 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Satta Stefania S Perseu Lucia L Moi Paolo P Asunis Isadora I Cabriolu Annalisa A Maccioni Liliana L Demartis Franca Rosa FR Manunza Laura L Cao Antonio A Galanello Renzo R
Haematologica 20110127 5
The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythropoiesis, has been recently reported to be responsible for persistence of high levels of fetal hemoglob ...[more]