Screening and treatment of thalassemia

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.