β地中海贫血症未满足的需求和不断变化的治疗前景

IF 1.4 4区 医学 Q4 HEMATOLOGY
Ryan Njeim , Bilal Naouss , Rayan Bou-Fakhredin , Antoine Haddad , Ali Taher
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引用次数: 0

摘要

β 地中海贫血症是一种遗传性疾病,会导致血红蛋白生成失衡,引起不同程度的贫血,有两种临床表型:输血依赖型地中海贫血症(TDT)和非输血依赖型地中海贫血症(NTDT)。输红细胞和铁螯合疗法是治疗 β 型地中海贫血症的常规疗法。目前现有的地中海贫血症常规疗法存在许多挑战和局限性。因此,目前正在开发多种新型治疗方法来治疗 β 地中海贫血症。这些疗法可分为三类,即纠正α/β球蛋白链失衡、解决无效红细胞生成和针对铁失调。由于可能出现多种并发症,血液制品的获取和供应有限,以及缺乏对治疗的依从性/坚持性,β-地中海贫血的治疗面临着挑战。针对无效红细胞生成的新型疗法似乎很有前景,这些疗法可改善贫血状况,减少对长期输血的需求。然而,这种疾病本身的复杂性要求为每位患者制定个性化的治疗方案。地中海贫血中心之间的合作和伙伴关系也有助于共享知识和资源,尤其是在发病率较高和资源有限的地区。本综述将探讨目前用于治疗 β 地中海贫血症的各种常规治疗方法,讨论尚未满足的需求和与之相关的挑战,并探讨一些新型治疗药物在该领域的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unmet needs in β-thalassemia and the evolving treatment landscape

β-thalassemias are genetic disorders causing an imbalance in hemoglobin production, leading to varying degrees of anemia, with two clinical phenotypes: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). Red blood cell transfusions and iron chelation therapy are the conventional treatment options for the management of β-thalassemia. Currently available conventional therapies in thalassemia have many challenges and limitations. Accordingly, multiple novel therapeutic approaches are currently being developed for the treatment of β-thalassemias. These strategies can be classified into three categories based on their efforts to address different aspects of the underlying pathophysiology of β-thalassemia: correction of the α/β globin chain imbalance, addressing ineffective erythropoiesis, and targeting iron dysregulation. Managing β- thalassemia presents challenges due to the many complications that can manifest, limited access and availability of blood products, and lack of compliance/adherence to treatment. Novel therapies targeting ineffective erythropoiesis and thus improving anemia and reducing the need for chronic blood transfusions seem promising. However, the complex nature of the disease itself requires personalized treatment plans for each patient. Collaborations and partnerships between thalassemia centers can also help share knowledge and resources, particularly in regions with higher prevalence and limited resources. This review will explore the different conventional treatment modalities available today for the management of β-thalassemia, discuss the unmet needs and challenges associated with them in addition to exploring the role of some novel therapeutic agents in the field.

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来源期刊
CiteScore
2.50
自引率
11.80%
发文量
234
审稿时长
36 days
期刊介绍: Transfusion Clinique et Biologique, the official journal of the French Society of Blood Transfusion (SFTS): - an aid to training, at a European level - the only French journal indexed in the hematology and immunology sections of Current Contents Transfusion Clinique et Biologique spans fundamental research and everyday practice, with articles coming from both sides. Articles, reviews, case reports, letters to the editor and editorials are published in 4 editions a year, in French or in English, covering all scientific and medical aspects of transfusion: immunology, hematology, infectious diseases, genetics, molecular biology, etc. And finally, a convivial cross-disciplinary section on training and information offers practical updates. Readership: "Transfusers" are many and various: anesthetists, biologists, hematologists, and blood-bank, ICU and mobile emergency specialists...
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