A New β-Thalassemia Deletion Mutation [Codon 36 (–C)] Observed in a Chinese Woman

Abstract

In this study we present the first report of the detection of a new β-thalassemia (β-thal) mutation at codon 36 (–C) in the Chinese population. This frameshift mutation generates a TGA stop codon at position 60, resulting in a thalassemia phenotype. This is the first example of a premature stop codon at position 60 because of codon 36. The characterization of uncommon mutations is useful for the screening of β-thal carriers, genetic counseling and prenatal diagnosis.

• β-Thalassemia (β-thal)
• Mutation
• β-Globin gene
• Frameshift
• Stop codon