Identification of a Rare β(0)-Thalassemia Mutation, Codon 54 (-T) (HBB: c.165delT) in an Iranian Family.

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to beta-Globins
• Share to beta-Thalassemia
• Share to Erythrocyte Indices