Core Insights - The prevalence of thalassemia carriers in China exceeds 30 million, with an estimated number of severe patients in the tens of thousands [1][3][6] - Thalassemia is a hereditary hemolytic anemia caused by defects in globin genes, leading to ineffective erythropoiesis and varying degrees of chronic anemia [2][3] - The disease is primarily divided into α-thalassemia and β-thalassemia, with severe cases requiring lifelong blood transfusions and iron chelation therapy [2][3] Disease Characteristics - Thalassemia is often confused with iron deficiency anemia, but they have fundamentally different causes; thalassemia is genetic while iron deficiency anemia is acquired [2][3] - Severe thalassemia can lead to life-threatening complications, including organ damage and severe deformities in fetuses [3][4] Treatment Developments - Current treatment for severe thalassemia mainly relies on allogeneic hematopoietic stem cell transplantation, which faces challenges such as donor matching and high costs [4][5] - Emerging gene editing technologies, particularly base editing, show promise for potentially curing β-thalassemia in a single treatment [5][6] - Clinical trials have demonstrated that patients treated with gene editing have stable hemoglobin levels and no longer require regular blood transfusions [6][7] Future Directions - The research team plans to conduct long-term follow-up studies on treated patients to monitor the safety and efficacy of gene editing [7] - There are intentions to expand the application of gene editing technology to other rare blood disorders, such as sickle cell anemia [7] - The cost of gene editing treatments is expected to decrease with technological advancements and policy support, making it accessible to more patients [7][8] Public Awareness and Prevention - There is a significant need for increased public awareness regarding thalassemia, as many individuals lack basic knowledge about the disease and its screening [8] - Efforts are being made by health authorities to promote pre-pregnancy and prenatal screening for thalassemia, but misconceptions hinder effective prevention [8]