NT-3作为地中海贫血诊断指标的研究及其与血红蛋白电泳模式的关系

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-08-02 DOI:10.1016/j.genrep.2025.102313

Duaa K. Mohammed , Layla O. Farhan

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引用次数: 0

摘要

β-地中海贫血（β-TH）是一种遗传性血红蛋白病，临床表现为多种形式，包括重度和中度。越来越多的证据表明，神经营养因子-3 （NT-3）是一种关键的神经营养因子，可能在慢性贫血的血液学和全身反应中发挥作用。本研究采用酶联免疫吸附试验（ELISA）定量测定了120名受试者的血清神经营养因子-3 （NT-3）水平：55名（β-TH）主要，25名β-TH中间，40名健康对照。与对照组相比，β-TH患者NT-3水平显著降低(p <；0.001)，从对照组到中间组和主要组逐渐下降。中等剂量组NT-3水平较低是由于不规则输血和不一致的治疗依从性。多因素回归显示NT-3与血红蛋白A2或胎儿血红蛋白无显著相关性。受试者工作特征（ROC）曲线分析显示NT-3对β-TH患者与对照组的诊断准确率较高（AUC = 0.998），截断值≤1921.84 pg/mL。这些发现突出了NT-3作为一种反映疾病严重程度和β-TH缺氧相关氧化应激的新型非侵入性生物标志物的潜在作用。

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Investigation of NT-3 as a diagnostic indicator in beta thalassemia with emphasis on relationship with hemoglobin electrophoresis patterns

Beta-thalassemia (β-TH) is a hereditary hemoglobinopathy that presents in various clinical forms, including major and intermedia. Emerging evidence suggests that neurotrophin-3 (NT-3), which is a key neurotrophic factor, may play a role in hematological and systemic responses to chronic anemia. This study quantified serum neurotrophin-3 (NT-3) levels in 120 subjects: 55 with (β-TH) major, 25 with β-TH intermedia, and 40 healthy control, using enzyme-linked immunosorbent assay (ELISA). NT-3 levels were significantly decreased in β-TH patients compared to controls (p < 0.001), with a progressive decline from controls to intermedia and major groups. The lower NT-3 levels in the intermedia group are attributed to irregular blood transfusions and inconsistent treatment adherence. Multivariate regression revealed no significant correlation between NT-3 and hemoglobin A2 or fetal hemoglobin. The receiver operating characteristic (ROC) curve analysis demonstrated a high diagnostic accuracy for NT-3 in distinguishing β-TH patients from controls (AUC = 0.998) with a cut-off value ≤1921.84 pg/mL. These findings highlight the potential role of NT-3 as a novel, non-invasive biomarker reflecting disease severity and hypoxia-related oxidative stress in β-TH.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.