The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

Anemia is a major source of morbidity and mortality worldwide. Here we review recent
insights into how red blood cells (RBCs) are produced, the pathogenic mechanisms …

Fetal hemoglobin (HbF, α 2 γ 2) level is genetically controlled and modifies severity of adult
hemoglobin (HbA, α 2 β 2) disorders, sickle cell disease, and β-thalassemia. Common …

Cis-regulatory elements (CREs) are commonly recognized by correlative chromatin features,
yet the molecular composition of the vast majority of CREs in chromatin remains unknown …

Genome-wide association studies (GWASs) have ascertained numerous trait-associated
common genetic variants, frequently localized to regulatory DNA. We found that common …

Distal enhancers commonly contact target promoters via chromatin loo**. In erythroid
cells, the locus control region (LCR) contacts β-type globin genes in a developmental stage …

Naturally occurring, large deletions in the β-globin locus result in hereditary persistence of
fetal hemoglobin, a condition that mitigates the clinical severity of sickle cell disease (SCD) …

Genes encoding human β-type globin undergo a developmental switch from embryonic to
fetal to adult-type expression. Mutations in the adult form cause inherited …

BCL11A, the major regulator of fetal hemoglobin (HbF, α2γ2) level, represses γ-globin
expression through direct promoter binding in adult erythroid cells in a switch to adult …

Genome editing with targeted nucleases and DNA donor templates homologous to the
break site has proven challenging in human hematopoietic stem and progenitor cells …