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Article

Three new beta-thalassemia mutations with varying degrees of severity.

Hemoglobin - 1 Jan 2009

Frischknecht Hannes, Dutly Fabrizio, Walker Lynda, Nakamura-Garrett Lisa M, Eng Barry, Waye John S

Abstract excerpt

We report the identification of three, new beta-thalassemia (beta-thal) mutations with varying degrees of severity. The most severe mutation, a frameshift mutation in exon 3 of the beta-globin gene [codon 120 (-A)], was associated with a dominant beta-thal phenotype. A second frameshift mutation, codon 50 (-T), resulted in a phenotype of typical high Hb A(2) beta-thal trait. The mildest mutation was IVS-II-2 (T >...

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Identifiers

PMID: 19657836
DOI: 10.1080/03630260903089060

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Source receipt: pubmed, retrieved 7 Sept 2026.

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