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

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

PROVIDER: PRJNA1096269 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR28555327_1.fastq.gz	Fastqsanger.gz
	SRR28555327_2.fastq.gz	Fastqsanger.gz
	SRR28555328_1.fastq.gz	Fastqsanger.gz
	SRR28555328_2.fastq.gz	Fastqsanger.gz
	SRR28555329_1.fastq.gz	Fastqsanger.gz

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

Project description: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.

2025-04-11 | GSE263204 | GEO

MicroRNA expression profile in GlycophorinA positive cells of severe and intermedia Eb thalassemia

Project description:To investigate whether the microRNA expression profile changes with modulation of severity, GlycophorinA positive cells were isolated by immunomagnetic procedure from peripheral blood of two Eb thalassemia patients with same b globin gene mutation but differing in transfusion requirment. MicroRNA expression profile of the two samples were monitored. Agilent one-color experiment,Organism: Human ,Agilent-019118 Human miRNA Microarray Labeling kit: Agilent miRNA labeling reagent and Hybridization Kit Cat # 5190-0408

2012-07-30 | E-GEOD-24428 | biostudies-arrayexpress

MicroRNA expression profile in GlycophorinA positive cells of severe and intermedia Eb thalassemia

2012-07-30 | GSE24428 | GEO

control vs. Th3 beta thalassemia kidney

Project description:a comparison of a control and a mutant condition (Th3) of the Hemoglobin Beta major and minor chain, used as Beta Thalassemia mouse model.

2012-03-07 | GSE36312 | GEO

control vs. Th3 beta thalassemia kidney

Project description:a comparison of a control and a mutant condition (Th3) of the Hemoglobin Beta major and minor chain, used as Beta Thalassemia mouse model. 4 controls and 4 mutants

2012-03-07 | E-GEOD-36312 | biostudies-arrayexpress

Enhancement of red blood cell transfusion compatibility using CRISPR-mediated erythroblast gene editing

Project description:Regular blood transfusion is the cornerstone of care for patients with red blood cell (RBC) disorders such as thalassemia or sickle cell disease. With repeated transfusion, alloimmunisation often occurs due to incompatibility at the level of minor blood group antigens. We use CRISPR-mediated genome editing of an immortalised human erythroblast cell line (BEL-A) to generate multiple enucleation competent cell lines deficient in individual blood groups. Edits are combined to generate a single cell line deficient in multiple antigens responsible for the most common transfusion incompatibilities: ABO (Bombay phenotype), Rh (Rhnull), Kell (K0), Duffy (Duffynull), GPB (S- s- U-). These cells can be differentiated to generate deformable reticulocytes, illustrating the capacity for coexistence of multiple rare blood group antigen null phenotypes. This study provides the first proof-of-principle demonstration of combinatorial CRISPR-mediated blood group gene editing to generate customisable or multi-compatible RBCs for diagnostic reagents or recipients with complicated matching requirements.

2018-04-26 | PXD009291 | Pride

Genotyping of human thalassemia patients reveals that the evolution of human beta-thalassemia major from minor is associated with paternal uniparental isodisomy of chromosome 11p15

Project description:Î²-thalassemia major can be caused by homozygous mutations of the HBB gene, most of the cases are inherited from parents who both have Î²-thalassemia minor. Herein, we show that a mosaic paternal uniparental isodisomy of chromosome 11p14.3-15.5 is associated with Î²-thalassemia major in a patient with Î²-thalassemia minor-that evolved to Î²-thalassemia major. From this case, we suggest that analysis of HBB gene for non-hematopoietic tissues should be performed in late-onset Î²-thalassemia major patients. Experiment Overall Design: This study is to evaluate the cause of delay-onset Î²-thalassemia major in our patient. Patients peripheral blood, hair follicle, and oral mucosa, and her parents pripheral blood samples were analyzed.

2008-06-15 | E-GEOD-7847 | biostudies-arrayexpress

Allogeneic red blood cell transfusion impairs antigen presentation and stimulates inflammatory response

Project description:Allogeneic red blood cell transfusion increases risk of infection and organ injury, which we here attempted to explain by analyzing gene expression in various types of immune cells. We prospectively compared adverse events and transcriptomic profiles in immune cells between patients who received transfusion of red blood cells (not plasma or platelets) during or after on-pump cardiac surgery and patients who did not. The composite rate of adverse events was significantly more frequent among patients who received transfusions (4 of 16, 25%) than among those who did not (3 of 60, 5%, p = 0.03). Transfusion downregulated in monocytes several genes involved in antigen presentation, such as HLA-DQA2 and HLA-DPB1, as well as several ligand-receptor pairs linking monocytes to natural killer cells (HLA-C-KIR2DL1, HLA-E-CD94:NKG2A) and T cells (CD28-CD86, CD2-CD58) for antigen presentation. Transfusion upregulated the early activation marker CD69 and pro-inflammatory and chemotactic factors (IL-6, TNFR1, TNFR2, CXCL9 and CCL3) in T, B and natural killer cells. Transfusion volume correlated positively with the percentage of CD69+ CD8+ T cells, which in turn correlated positively with composite risk of adverse events. Our findings may help explain how transfusion causes immunosuppression and systemic inflammation, thereby increasing risk of adverse events. Our work may provide clues to developing preventive or mitigating measures in order to optimize prognosis of patients who receive blood cell transfusions.

2025-03-19 | GSE251696 | GEO

Health state utilities associated with treatment for transfusion-dependent β-thalassemia.

Project description:ObjectivesTransfusion-dependent β-thalassemia (TDT) is a genetic disease that affects production of red blood cells. Conventional treatment involves regular red blood cell transfusions and iron chelation, which has a substantial impact on quality of life. While potentially curative, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is associated with risk of complications, including graft-versus-host disease (GvHD). Gene addition therapy, a novel treatment approach, involves autologous transplantation of the patient's own genetically modified hematopoietic stem cells. The purpose of this study was to estimate utilities associated with treatment approaches for TDT.MethodsGeneral population respondents in England valued eight health state vignettes (developed with clinician, patient, and parent input) in time trade-off interviews.ResultsA total of 207 participants completed interviews (49.8% female; mean age = 43.2 years). Mean (SD) utilities for the pre-transplant health states were 0.73 (0.25) with oral chelation and 0.63 (0.32) with subcutaneous chelation. Mean utilities for the transplant year were 0.62 (0.35) for gene addition therapy, 0.47 (0.39) for allo-HSCT, and 0.39 (0.39) for allo-HSCT with acute GvHD. Post-transplant utilities were 0.93 (0.15) for transfusion independent, 0.75 (0.25) for 60% transfusion reduction, and 0.51 (0.38) for chronic GvHD. Acute and chronic GvHD were associated with significant disutility (acute = - 0.09, p < 0.0001; chronic = - 0.42, p < 0.0001).ConclusionsUtilities followed expected patterns, with logical differences between treatment options for TDT and substantially greater utility for transfusion independence than for ongoing treatment involving transfusion and chelation. These utilities may be useful in cost-utility models estimating the value of treatments for TDT.

| S-EPMC7188724 | biostudies-literature

TWIST1 is required for HSC maintenance under steady state and stress condition by inhibiting mitochondrial metabolism gene program

Project description:TWIST1 is required for HSC maintenance under steady state and stress condition by inhibiting mitochondrial metabolism gene program

| PRJNA552226 | ENA

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