A Novel 26 bp Deletion [HBB: c.20_45del26bp] in Exon 1 of the β-Globin Gene Causing β-Thalassemia Major

Abstract

Molecular characterization of β-thalassemia (β-thal) is essential in prevention and in understanding the biology of the disease. Deletion mutations are relatively uncommon in β-thal. In this report, we describe a novel 26 bp deletion from codon 6 to codon 14 in the β-globin in a consanguineous family from Tamil Nadu, India. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence, and consequently, a premature chain termination of translation due to the creation of a stop codon at the position of codon 21. The identification of this novel deletional mutation adds to the repertoire of β-thal mutations in India.

• Novel mutation
• β-Thalassemia (β-thal)
• Deletion
• India