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 found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a beta zero-thalassemic phenotype. The affected family members all present hematological findings typical for beta-thalassemic trait, with slight anemia, marked microcytosis, and increased levels of Hb A2.
Landin
B
B
Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
Rudolphi
O
O
Ek
B
B
D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D005914:Globins / Q000235:genetics*; D006461:Hemolysis; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010442:Peptide Chain Initiation, Translational; D013548:Sweden; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D007501:Iron