Ontology highlight
ABSTRACT:
INSTRUMENT(S):
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Erythrocyte, Blood
DISEASE(S): Thalassemia
SUBMITTER:
ANUPAM BASU
LAB HEAD: Anupam Basu
PROVIDER: PXD054385 | Pride | 2026-06-08
REPOSITORIES: Pride
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Mitra Nibedita N Bhattacharyya Upasana U Chowdhury Prosanto P Pal Arijit A M Korwar Arvind A Bhattacharjee Samsidhhi S Basu Anupam A
Blood advances 20260501 10
<h4>Abstract</h4>Hemoglobinopathies are the most common monogenic genetic disorders, primarily managed through blood transfusions or bone marrow transplantation. Clinical severity other than mutational effect is not well investigated and still unknown. This study aimed to identify dysregulated molecular pathways in red blood cells (RBCs) contributing to thalassemia severity. From a cohort of 285 patients with hemoglobinopathy, 10 age-matched individuals with identical compound heterozygous mutat ...[more]