β-Thalassemia (β-thal) is the most widespread autosomal recessive disorder worldwide. The present study describes a very rare β-globin gene mutation, codon 54 (-T) (HBB: c.165delT), in a family from northern Iran. Nucleotide sequencing of amplified DNA obtained from a 28-year-old man revealed a deletion (-T) at codon 54 of the β-globin gene that results in a nonsense sequence at codon 60 and inphase termination at codon 59. Moreover, the haplotype combination of six different restriction enzyme sites in the β-globin cluster was determined for this mutation. To the best of our knowledge, this is the second article reporting the codon 54 mutation worldwide and the first report of this mutation in the Iranian population, emphasizing the high heterogeneity of this population.
Keywords: HBB: c.165delT mutation; Iran; β-Thalassemia (β-thal).