Three new beta-thalassemia mutations with varying degrees of severity.
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.
Frischknecht
Hannes
H
Institute for Medical & Molecular Diagnostics Ltd, Zürich, Switzerland.
Dutly
Fabrizio
F
Walker
Lynda
L
Nakamura-Garrett
Lisa M
LM
Eng
Barry
B
Waye
John S
JS
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
D022821:RNA Splice Sites; D055544:beta-Globins