A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major.
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.
Department of Haematology, Christian Medical College, Vellore, India.
Eunice S
ES
Edison
Rajkumar S
RS
Venkatesan
Sankari Devi
SD
Govindanattar
Biju
B
George
Ramachandran V
RV
Shaji
D001483:Base Sequence; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005192:Family Health; D006801:Humans; D007194:India; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins