ArticleiScience2022
Plasma proteome profiling combined with clinical and genetic features reveals the pathophysiological characteristics of β-thalassemia.
Article in iScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Comparison of In-Gel and SP3 Based Sample Preparation Protocols for LC-MS/MS Based Proteomics.Proteomics · 2026Article
- Red blood cell membrane proteome as a reporter of disease severity, transfusion impact and genetic background in transfusion-dependent β-thalassaemia.British journal of haematology · 2026Article
- Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances.The Journal of international medical research · 2026Review
- Single-Position Peptide Clustering for Peptidomics Reveals Novel Disease Biomarkers and Dysregulated Proteolytic Characteristics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Dysregulation of Ceruloplasmin, α2-Macroglobulin, and Alpha-2-HS-Glycoprotein in Transfusion-Dependent Thalassemia.Advances in hematology · 2025Article
- Multidisciplinary approaches to study anaemia with special mention on aplastic anaemia (Review).International journal of molecular medicine · 2024Review
- Serum visfatin level in β-thalassemia and its correlation with disease severity.Journal of medicine and life · 2024Article
- Human cellular model systems of β-thalassemia enable in-depth analysis of disease phenotype.Nature communications · 2023Article
- Discovery-Based Proteomics Identify Skeletal Muscle Mitochondrial Alterations as an Early Metabolic Defect in a Mouse Model of β-Thalassemia.International journal of molecular sciences · 2023Article
- Differential proteomic patterns of plasma extracellular vesicles show potential to discriminate β-thalassemia subtypes.iScience · 2023Article
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Authors and funding
17 authors.
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Abstract
The phenotype of β-thalassemia underlies multigene interactions, making clinical stratification complicated. An increasing number of genetic modifiers affecting the disease severity have been identified, but are still unable to meet the demand of precision diagnosis. Here, we systematically conducted a comparative plasma proteomic profiling on patients with β-thalassemia and healthy controls. Among 246 dysregulated proteins, 13 core protein signatures with excellent biomarker potential are proposed. The combination of proteome and patients' clinical data revealed patients with codons 41/42 -TTCT mutations have an elevated risk of higher iron burden, dysplasia, and osteoporosis than patients with other genotypes. Notably, 85 proteins correlating to fetal hemoglobin (Hb F) were identified, among which the abundance of 27 proteins may affect the transfusion burden in patients with β-thalassemia. The current study thus provides protein signatures as potential diagnostic biomarkers or therapeutic clues for β-thalassemia.
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