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TranscriptomicsGene expression profile of peripheral blood mononuclear cells in the X-linked alpha thalassemia mental retardation (ATRX) syndrome
ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a protein belonging to the SWI/SNF DNA helicase family, a group of proteins involved in the regul...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-22028 | biostudies-arrayexpress
Transcriptomicscontrol vs. Th3 beta thalassemia kidney
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
ORGANISM(S): Mus musculus 
2012-03-07 | E-GEOD-36312 | biostudies-arrayexpress
ProteomicsProtemic characterisation of the β-thalassemia erythroid cells from immortalised cell lines
β-thalassemia cell lines were generated via CRISPR-Cas9 genome editing of Bristol Erythroid Line Adult (BEL-A) and differentiated to the basophilic and polychromatic erythroid cell stage. TMT comparative proteomics was then performed on stage matched WT and β-thalassemia cells isolated by FACS.
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD044730 | Pride
Β-thalassemia erythroid cells 
ProteomicsDevelopment of pathophysiologically relevant models of sickle cell disease and β-thalassemia for therapeutic studies
β-hemoglobin disorders, such as sickle cell disease (SCD) and β-thalassemia (BT), are the most common inherited monogenic blood disorders globally. Despite decades of research, there are only four FDA-approved medications available for the management of SCD with hydroxyurea (HU) being the most widel...
ORGANISM(S): Homo sapiens (Human) 
2024-02-07 | PXD044642 | Pride
Proteomics Mass spectrometer Sickle cell disease Erythroid progenitor line Crispr/cas9 10-plex tmt label Β-thalassemia 
UnknownMolecular characterization of β-thalassemia intermedia in the West Bank, Palestine.
Not available
S-EPMC6380065 | biostudies-literature
ProteomicsRBC Proteomics of different types of Thalassemia subjects
10 patients with Hb E/ Beta Thalassemia with same genotype within 8 to 20 years of age and 5 healthy normal volunteer with age sex matched were selected for the RBC proteomics study.
ORGANISM(S): Homo sapiens (Human) 
2026-06-08 | PXD054385 | Pride
GenomicsATRX-mediated chromatin association of histone variant macroH2A1 regulates alpha globin gene expression
The histone variant macroH2A generally associates with transcriptionally inert chromatin, however the factors that regulate its chromatin incorporation remain elusive. Here, we identify the SWI/SNF helicase, ATRX, as a novel macroH2A interacting protein. Unlike its role in assisting H3.3 chromatin d...
ORGANISM(S): Homo sapiens 
2012-03-08 | E-GEOD-35339 | biostudies-arrayexpress
UnknownFerritin thresholds for cardiac and liver hemosiderosis in β-thalassemia patients: a diagnostic accuracy study.
Not available
S-EPMC9606378 | biostudies-literature
TranscriptomicsGenotyping of human thalassemia patients reveals that the evolution of human beta-thalassemia major from minor is associated with paternal uniparental isodisomy of chromosome 11p15
β-thalassemia major can be caused by homozygous mutations of the HBB gene, most of the cases are inherited from parents who both have β-thalassemia minor. Herein, we show that a mosaic paternal uniparental isodisomy of chromosome 11p14.3-15.5 is associated with β-thalassemia major in a patient wi...
ORGANISM(S): Homo sapiens 
2008-06-15 | E-GEOD-7847 | biostudies-arrayexpress
ProteomicsIdentification of a rare Asian Indian Deletion [Gγ(Aγδβ)0] Delta-Beta Thalassemia using High Resolution Mass Spectrometry
Delta-Beta thalassemia is an unusual variant of thalassemia caused by large deletions in the β globin gene cluster involving δ- and β-globin genes. The mutations are characterized by high fetal hemoglobin with significant phenotypic diversity. Routinely used diagnostic tests targeting point mutation...
ORGANISM(S): Homo sapiens (Human) 
2024-08-09 | PXD044775 | Pride
Delta beta thalassemia Hemoglobinopathies Hplc Globin Lc-ms/ms 
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