A New Insertion Mutation in the β-Globin Gene [Codons 45/46 (+A)] Resulting in a β-Thalassemia Minor Phenotype

Abstract

The β-globin gene of 306 newly diagnosed β-thalassemia (thal) minor patients were sequenced. Analysis revealed that only one amongst all the identified mutations had not been previously reported. This new mutation, causing a β⁺-thal minor phenotype, was found in a patient of Arabic origin. The insertion frameshift mutation (+A) between codons 45 and 46 [codons 45/46 (+A)] results in a premature termination signal at codon 52. No truncated β-globin or abnormal hemoglobin (Hb) was identified.

Keywords:

• β-Thalassemia (thal)
• Mutation
• β-Globin
• Insertion