Japanese β°-thalassemia: Molecular characterization of a novel insertion causing a stop codon

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Abstract
During a physical checkup, a 42‐year‐old Japanese man with liver dysfunction was diagnosed as having β‐thalassemia. Using molecular biological techniques including PCR, we investigated the chemical basis of the hematological disorder. We found that a frameshift attributable to the insertion of a thymidine into or following the TTT sequence of codon 42 transformed codon 43 (GAG) into a stop codon (TGA). We believe that this mutation has not been previously reported.