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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 6
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Short Communications

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

, , , , , , , & show all
Pages 599-603 | Received 10 Feb 2010, Accepted 31 Jul 2010, Published online: 15 Nov 2010
 

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.

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