Single cell transcription profiles of hematopoietic stem and progenitor cells from Beta thalassemia transfusion dependent patients in steady state condition

We investigated the composition of the hematopoietic stem and progenitor pool in beta-thalassemia (BThal) patients by perfoming scRNA-seq on CD34+ hematopoietic stem progenitor cells (HSPCs) and on single phenotypic hematopoietic stem/multiputent cells (HSCs/MPPs). These single-cell approaches reveal molecular and functional heterogeneity within the HSPC compartment in the bone marrow from Bthal patients in steady state condition in comparison with aged matched pediatric patients. Overall design: To better characterize the early steps of hematopoiesis in Bthal patients, we performed scRNA-seq on BM CD34+ cells and phenotypic HSC/MPP (CD34+ CD38- CD45RA-) cells isolated by Fluorecence-activated cell sorting (FACS) from 6 Bthal and 1 age-matched healthy donor (HD) bone marrow samples.