INITIATION CODON MUTATION (ATG-]ATA) OF THE BETA-GLOBIN GENE CAUSING BETA-THALASSEMIA IN A SWEDISH FAMILY

An initiation codon mutation ATG-->ATA of the beta-globin gene was fou nd in seven members of three generations of a family living in norther n Sweden, This mutation, which has not previously been described, chan ges the initiation codon for methionine into a codon for isoleucine an d will then result in a beta(0)-thalassemic phenotype, The affected fa mily members all present hematological findings typical for beta-thala ssemic trait, with slight anemia, marked microcytosis, and increased l evels of Hb A(2). (C) 1995 Wiley-Liss, Inc.