Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG).
We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal trait. Sequence analysis identified a nonsense mutation in exon 2 of the alpha2-globin gene, at amino acid codon 54 (CAG>TAG).
Eng
Barry
B
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada.
Walker
Lynda
L
Waye
John S
JS
D000368:Aged; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D017354:Point Mutation; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
D018389:Codon, Nonsense; D055542:alpha-Globins