Novel β-thalassemia trait (IVS I-1 G→C) in a Japanese family

Abstract

A rare β-thalassemia mutation at the splicing junction [namely, G→C in intervening sequence (IVS) I-1] was found in a Japanese family. The proband and his mother were heterozygous for the mutation. Analysis of mRNA extracted from the reticulocyte-rich fraction obtained from the proband's mother revealed that the mutant β-globin gene did not produce any detectable, stable mRNA including exon 1 and exon 2, since the polymorphism in exon 1 on her mutant gene was not detected in the RT-PCR products. © 2002 Wiley-Liss, Inc.