Article
Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding.
Nature genetics - 1 Apr 2018
Martyn Gabriella E, Wienert Beeke, Yang Lu, Shah Manan, Norton Laura J, Burdach Jon, Kurita Ryo, Nakamura Yukio, Pearson Richard C M, Funnell Alister P W, Quinlan Kate G R, Crossley Merlin
Abstract excerpt
β-hemoglobinopathies such as sickle cell disease (SCD) and β-thalassemia result from mutations in the adult HBB (β-globin) gene. Reactivating the developmentally silenced fetal HBG1 and HBG2 (γ-globin) genes is a therapeutic goal for treating SCD and β-thalassemia 1 . Some forms of hereditary persistence of fetal hemoglobin (HPFH), a rare benign condition in which individuals express the γ-globin gene throughout...
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