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