title: alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T).
abstract: 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).
authors: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. waye@hhsc.ca
authors: John S
authors: JS
authors: Waye
authors: Barry
authors: B
authors: Eng
authors: Fabrizio
authors: F
authors: Dutly
authors: Hannes
authors: H
authors: Frischknecht
mesh_terms: 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*
chemical_list: D055542:alpha-Globins