Single-cell transcriptomics reveals heterocellular g-globin gene expression in Agdb-thalassemia

To determine the heterogeneity of g-globin expression in the context of deletions that induce fetal hemoglobin, single-cell RNA-seq was performed on primary reticulocytes and undifferentiated HUDEP-2 cells. Single-cell RNA-sequencing (10x Genomics) showed participants and cell lines with the Agdb-thalassemia deletion had overall lower g-globin expression and maintained a lower %HBG expression (HBG/(HBG+HBB)) compared to participants and cell lines with deletional HPFH. Overall design: Single-cell RNA-sequencing analysis of HUDEP-2 cells and reticulocytes from HbS/Agdb-thal and HbS/HPFH participants