Two novel β-thalassemia mutations in the 5′ and 3′ noncoding regions of the β-globin gene

Abstract

Two novel β-thalassemia mutations are described. The first mutation, found in an Italian family, is a G→A substitution in nucleotide (nt) +22 relative to the β-globin gene Cap site. This mutation creates a cryptic ATG initiation codon, the utilization of which for translation would result in premature termination 36 bp 3′ downstream. The second mutation, found in an Irish family, is a T→C substitution in nt + 1570, or 12 bp 5′ upstream of the AATAAA polyadenylation signal in the 3′ noncoding region. It is postulated that this mutation leads to destabilization of the encoded β-globin mRNA. © 1992 by The American Society of Hematology.