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Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review
1. Introduction Thalassemia is a group of inherited hemolytic anemia diseases resulting from genetic mutations that lead to the absence or deficiency of the synthesis of one or more globin chains in hemoglobin. The clinical symptoms of thalassemia were initially described by Dr. Thomas B. Cooley in 1925 (1).
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