Thalassemia is a recessive monogenic hematological disease associated with reduced amounts of functional hemoglobin caused by mutations/deletions in at least one of the globin genes. This disease has attracted significant attention throughout the years in terms of genetic diagnosis and developments in gene and cell therapy. Here, recent progress is reviewed in the genetic diagnosis and development of therapeutics for thalassemia, particularly β-thalassemia, in China and around the world.
Keywords: gene and cell therapy; genetic diagnosis; globin gene; hematopoietic stem cell (HSC); thalassemia.