alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T).
We report the identification of two different mutations involving the first nucleotide of intron 1 of the alpha2-globin gene: IVS-I-1 G-->A and G-->T. The available data indicated that both mutations reduce the efficiency of proper mRNA splicing, resulting in alpha(+)-thalassemia (alpha(+)-thal).
Waye
John S
JS
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. waye@hhsc.ca
Eng
Barry
B
Dutly
Fabrizio
F
Frischknecht
Hannes
H
D000368:Aged; D002170:Canada; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics*; D012802:Sicily; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
D055542:alpha-Globins