α-Thalassemia Caused by Two Novel Splice Mutations of the α2-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).