Frameshift mutation in the alpha2-globin gene causing alpha+ -thalassemia: codon 49 (-GC).
We report a new alpha-thalassemia (alpha-thal) point mutation detected in a woman with alpha(+)-thal. Sequence analyses identified a frameshift mutation at codon 49 (-GC) in exon 2 of the alpha2-globin gene.
Eng
Barry
B
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
Waye
John S
JS
D000328:Adult; D002170:Canada; D003062:Codon / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005914:Globins; D006801:Humans; D017085:alpha-Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins