LAUSR

ABSTRACT Background The reactivation of fetal γ-globin expression is an effective strategy for ameliorating the clinical symptoms of β-hemoglobinopathies. However, the mechanism of globin switching, especially the roles of long non-coding RNAs (lncRNAs) in this process, remains elusive. Methods We compared the in vivo transcriptome profiles of nucleated red blood cells (NRBCs) isolated from the umbilical cord blood of preterm and full-term newborns. We collected 75 umbilical cord blood samples and performed qPCR of the candidate genes. Results In this study, we identified 7,166 differentially expressed protein-coding genes, 3,243 differentially expressed lncRNAs, and 79 differentially expressed microRNAs. Our data show that the Fanconi anemia pathway and the H19/let-7/LIN28B axis may be involved in γ- to β-globin gene switching. Moreover, we constructed the hub gene network of the differentially expressed transcription factors. Based on qPCR, we found that BCL11A was differentially expressed based on biological sex. We also confirmed that H19 is differentially expressed and established the H19-related network to reveal the potential regulatory mechanisms. Conclusion We present the profiles of the in vivo transcriptome differences of NRBCs between preterm and full-term neonates for the first time, and provide novel research targets for β-hemoglobinopathies.