A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the ß-globin gene causing ß-thalassemia major.

Molecular characterization of ß-thalassemia (ß-thal) is essential in prevention and in understanding the biology of the disease. Deletion mutations are relatively uncommon in ß-thal. In this report, we describe a novel 26 bp deletion from codon 6 to codon 14 in the ß-globin in a consanguineous family from Tamil Nadu, India. This novel mutation causes a shift in the normal reading frame of the ß-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 ß-thal mutations in India.