A NOVEL β-THALASSEMIA MUTATION IN AN ASIAN INDIAN

Abstract

A novel 7 bp deletion in exon 2 of the β-globin gene in a 9-year-old boy originating from the eastern part of India is described. This deletion causes a shift in the reading frame of the β-globin coding sequences, and consequently, a premature translation termination due to the creation of a stop codon at position 86. A slipped strand mispairing during DNA replication repair is proposed as the potential mechanism in generating this small deletion.