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  • Title: Three new beta-thalassemia mutations with varying degrees of severity.
    Author: Frischknecht H, Dutly F, Walker L, Nakamura-Garrett LM, Eng B, Waye JS.
    Journal: Hemoglobin; 2009; 33(3):220-5. PubMed ID: 19657836.
    Abstract:
    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 > C), which changes the splice donor sequence of IVS-II from GT to GC. This transition mutation resulted in a slight reduction in beta-globin gene expression and could be considered a mild beta(+)-thal allele.
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