Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening

Abstract

We report three new α-thalassemia (thal) point mutations detected during newborn screening for hemoglobinopathies. The first mutation is a single nucleotide deletion (−A) that abolishes the translation initiation codon of the α2-globin gene, detected in a newborn of Hmong ethnicity who carried the Southeast Asian α⁰-thal deletion (α^Tα/– –^SEA). The second mutation, a frameshift caused by a single nucleotide deletion in exon 2 of the α1-globin gene [codon 78 (−C)], was detected in a Black/Chinese newborn who also carried the Southeast Asian α⁰-thal deletion (αα^T/– –^SEA). The third mutation was a frameshift in exon 3 of the α2-globin gene, codons 113/114 (−C). This mutation was detected in a newborn who carried the 3.7 kb α⁺-thal deletion (α^Tα/–α^3.7).

Keywords:

• α-Thalassemia (thal)
• Point mutations
• Frameshift
• Initiation codon