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利用多组学方法和先进技术揭示血红蛋白 H 病的分子复杂性、修饰因子和精准医疗策略。

Leveraging Multi-Omics Approaches and Advanced Technologies to Unravel the Molecular Complexities, Modifiers, and Precision Medicine Strategies for Hemoglobin H Disease.

机构信息

SVKM's Dr. Bhanuben Nanavati College of Pharmacy, Mumbai, Maharashtra, India.

MES's H. K. College of Pharmacy, Mumbai, Maharashtra, India.

出版信息

Eur J Haematol. 2024 Dec;113(6):738-744. doi: 10.1111/ejh.14319. Epub 2024 Oct 9.

DOI:10.1111/ejh.14319
PMID:39385444
Abstract

Hemoglobin H (HbH) disease, a form of alpha-thalassemia, poses significant clinical challenges due to its complex molecular underpinnings. It is characterized by reduced synthesis of the alpha-globin chain. The integration of multi-omics and precision medicine holds immense potential to comprehensively understand and capture interactions at the molecular and genetic levels. This review integrates current multi-omics approaches and advanced technologies in HbH research. Furthermore, it delves into detailed pathophysiology and possible therapeutics in the upcoming future. We explore the role of genomics, transcriptomics, proteomics, and metabolomics studies, alongside bioinformatics tools and gene-editing technologies like CRISPR/Cas9, to identify genetic modifiers, decipher molecular pathways, and discover therapeutic targets. Recent advancements are unveiling novel genetic and epigenetic modifiers impacting HbH disease severity, paving the way for personalized precision medicine interventions. The significance of multi-omics research in unraveling the complexities of rare diseases like HbH is underscored, highlighting its potential to revolutionize clinical practice through precision medicine approaches. This paradigm shift can pave the way for a deeper understanding of HbH complexities and improved disease management.

摘要

血红蛋白 H (HbH) 病是一种α-地中海贫血,由于其复杂的分子基础,给临床带来了重大挑战。它的特征是α-珠蛋白链的合成减少。多组学和精准医学的结合具有巨大的潜力,可以全面了解和捕捉分子和遗传水平上的相互作用。这篇综述整合了当前 HbH 研究中的多组学方法和先进技术,深入探讨了即将到来的未来的详细病理生理学和可能的治疗方法。我们探讨了基因组学、转录组学、蛋白质组学和代谢组学研究,以及生物信息学工具和基因编辑技术(如 CRISPR/Cas9)在识别遗传修饰物、解析分子途径和发现治疗靶点方面的作用。最近的进展揭示了影响 HbH 疾病严重程度的新的遗传和表观遗传修饰物,为个性化精准医学干预铺平了道路。多组学研究在揭示 HbH 等罕见病复杂性方面的重要性得到了强调,凸显了其通过精准医学方法改变临床实践的潜力。这种范式转变可以为深入了解 HbH 的复杂性和改善疾病管理铺平道路。

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