Screening and treatment of thalassemia

IF 3.2 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinica Chimica Acta Pub Date : 2025-02-22 DOI:10.1016/j.cca.2025.120211

Yue Su , Jiahao Xie , Junjia He , Yeyu Shen , Ting Li , Weitao Huang , Xiangmin Tong , Qiong Bian

引用次数: 0

Abstract

Thalassemia refers to a collection of inherited conditions that lead to the production of abnormal hemoglobin, resulting from defects in the synthesis of globin chains. Currently, there is no definitive cure for thalassemia; therefore, early screening for thalassemia is the focus of clinical research. In recent years, thalassemia screening technology has been continuously developed, leading to updates in screening methods and significant improvements in accuracy. Genetic testing and hemoglobin electrophoresis are more popular in high-resource areas, effectively reducing the birth rate of children with severe thalassemia. This review summarizes current research on thalassemia screening from the perspectives of premarital, prenatal, and neonatal screening. In addition, the latest research on treatment of thalassemia has been concluded from the induction of fetal hemoglobin to gene therapy.

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地中海贫血症是指由于球蛋白链合成缺陷而导致血红蛋白生成异常的一系列遗传性疾病。目前，地中海贫血症尚无确切的治疗方法，因此，地中海贫血症的早期筛查是临床研究的重点。近年来，地中海贫血筛查技术不断发展，筛查方法不断更新，准确性显著提高。基因检测和血红蛋白电泳在高资源地区更为普及，有效降低了重型地中海贫血患儿的出生率。本综述从婚前筛查、产前筛查和新生儿筛查的角度总结了目前地中海贫血筛查的研究情况。此外，从胎儿血红蛋白诱导到基因治疗，总结了地中海贫血治疗的最新研究成果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinica Chimica Acta 医学-医学实验技术

CiteScore

10.10

自引率

2.00%

发文量

1268

审稿时长

23 days

期刊介绍： The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.