Lv Aixiang, Li Jingmin, Chen Meihuan, Wang Wei, Xu Liangpu, Huang Hailong
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, People's Republic of China.
College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, People's Republic of China.
Int J Gen Med. 2024 Sep 11;17:3989-4001. doi: 10.2147/IJGM.S479493. eCollection 2024.
Thalassemia, an inherited quantitative globin disorder, is the most prevalent monogenic disease globally. While severe alpha thalassemia results in intrauterine death, β-thalassemia manifests during childhood due to the "second conversion of hemoglobin", garnering increased attention in recent decades.
In this study, a bibliometric analysis was conducted of thalassemia articles published in the Web of Science Core Collection database between 2013 and 2023 to establish a comprehensive overview and to identify emerging trends. A total of 5655 studies published between 2013 and 2023 were systematically retrieved, and annual publications demonstrated a steady increase, maintaining a high level over the past decade.
The United States contributed the highest number of publications, followed by China. Notably, the journal emerged as the leading authority in β-thalassemia research. Analysis of research hotspots revealed that the pathogenesis of β-thalassemia is primarily linked to iron overload, anemia, gene mutations, and ineffective erythropoiesis. Furthermore, recent studies focusing on gene editing therapies present promising avenues for future investigation.
These findings grasp the research status of β-thalassemia and shed new light on future research frontiers.
地中海贫血是一种遗传性珠蛋白定量疾病,是全球最常见的单基因疾病。重度α地中海贫血会导致宫内死亡,而β地中海贫血则因“血红蛋白的二次转换”在儿童期表现出来,近几十年来受到越来越多的关注。
在本研究中,对2013年至2023年期间发表在科学网核心合集数据库中的地中海贫血文章进行了文献计量分析,以建立全面的概述并确定新出现的趋势。系统检索了2013年至2023年期间发表的5655项研究,年度出版物呈稳步增长,在过去十年中保持在较高水平。
美国的出版物数量最多,其次是中国。值得注意的是,该期刊成为β地中海贫血研究的 leading authority。对研究热点的分析表明,β地中海贫血的发病机制主要与铁过载、贫血、基因突变和无效红细胞生成有关。此外,最近关注基因编辑疗法的研究为未来的研究提供了有希望的途径。
这些发现掌握了β地中海贫血的研究现状,并为未来的研究前沿提供了新的思路。