title: Three new beta-thalassemia mutations with varying degrees of severity.
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.
authors: Institute for Medical & Molecular Diagnostics Ltd, Zürich, Switzerland.
authors: Hannes
authors: H
authors: Frischknecht
authors: Fabrizio
authors: F
authors: Dutly
authors: Lynda
authors: L
authors: Walker
authors: Lisa M
authors: LM
authors: Nakamura-Garrett
authors: Barry
authors: B
authors: Eng
authors: John S
authors: JS
authors: Waye
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics; D012720:Severity of Illness Index; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D022821:RNA Splice Sites; D055544:beta-Globins