Fetal hemoglobin (HbF) is the major genetic modulator of the hematologic and clinical
features of sickle cell disease, an effect mediated by its exclusion from the sickle hemoglobin …

Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian
disorder. Fetal hemoglobin concentration and coincident α thalassemia, both which directly …

Genome editing has therapeutic potential for treating genetic diseases and cancer.
However, the currently most practicable approaches rely on the generation of DNA double …

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

The processes that shaped modern European mitochondrial DNA (mtDNA) variation remain
unclear. The initial peopling by Palaeolithic hunter-gatherers~ 42,000 years ago and the …

Fetal hemoglobin (HbF) modulates the phenotype of sickle cell anemia by inhibiting deoxy
sickle hemoglobin (HbS) polymerization. The blood concentration of HbF, or the number of …

We used resequencing and genotyping in African Americans with sickle cell anemia (SCA)
to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB …

Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

The major disorders of β-globin, sickle cell disease and β-thalassemia, may be ameliorated
by expression of the fetal gene paralog γ-globin. Uncertainty regarding the mechanisms …

For more than two decades, hydroxyurea was the only therapeutic agent approved by the
Food and Drug Administration (FDA) for sickle cell disease (SCD). Although curative …