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

The beta-globin gene of 306 newly diagnosed beta-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 beta(+)-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 beta-globin or abnormal hemoglobin (Hb) was identified.