Whole Blood Transcriptome Analysis in Children with Sickle Cell Anemia

• DOI: 10.3389/fgene.2021.737741
• Publication Date: 2022-01-13T06:48:32Z
• Authors: Beatrice E. Gee; Andrea Pearson; Iris Buchanan-Perry; Roger P. Simon; David R. Archer; Robert Meller
• Keywords: Fold change

Whole transcriptome RNA-sequencing was performed to quantify RNA expression changes in whole blood samples collected from steady state sickle cell anemia (SCA) and control subjects. Pediatric SCA subjects were recruited Atlanta (GA)—based hospital(s) systems consented for sequencing. sequencing on an Ion Torrent S5 sequencer, using the Total RNA-seq v2 protocol. Data aligned hg19 reference genome analyzed Partek Genomics studio package (v7.0). 223 genes differentially expressed between controls (± 1.5 fold change FDR p < 0.001) 441 show differential transcript 0.001). Differentially are enriched hemoglobin associated ubiquitin-proteasome pathway genes. Further analysis shows higher gamma globin gene (33-fold HBG1 49-fold HBG2, both 0.05), which did not correlate with F protein levels. eQTL identified SNPs novel non-coding RYR2 as having a potential regulatory role HBG2 Gene correlation JHDM1D-AS1(KDM7A-DT), angiogenesis, enhanced GATA1 decreased JAK-STAT signaling mRNA These data suggest mechanisms fetal regulation, may offer innovative therapeutic approaches SCA.