LETTER TO THE EDITOR: A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta‐globin gene leads to thalassemia major

Nonsense mutation of β-globin gene at codon 82 (AAG→TAG) or HBB:C247 A→T with polymorphism: cause of thalassemia intermedia?

“…Angalena et al. , 2010 has recently described the mutation of codon 82 β (A→T) in homozygous condition in a thalassemia major patient of South Indian origin.…”