[Clinical practice guidelines for beta-thalassemia].

Beta-thalassemia is an autosomal recessive genetic disease as well as one of the single gene disorders whose molecular basis was first clarified. The disease is mainly distributed in tropical and subtropical areas including southern China. Children with beta-thalassemia major have no obvious symptoms at birth, but will usually die in early childhood due to severe anemia and lack of effective treatment. This disease can be prevented by prenatal diagnosis. Patients with severe anemia can survive for a long time with life-long standardized blood transfusion and iron removal therapy. Hematopoietic stem cell transplantation may cure the disease, and gene therapy also showed a promising prospect. Based on the phenotypic and genetic data of Chinese population, this article focuses on the clinical diagnosis and genetic consultation of beta-thalassemia, and summarizes the key points of clinical treatment and population prevention of beta-thalassemia in order to provide clinicians and laboratory personnel with a practical guidance for the clinical management of beta-thalassemia.