A Novel β⁰-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (–TT)] in an Iraqi Kurd

Abstract

We report a novel frameshift β-thalassemia (β-thal) mutation due to a two-nucleotide deletion at codon 118 of the β-globin gene (HBB: c.356_357delTT) in a 4-year-old Iraqi Kurd female presenting as transfusion-dependent β-thal. This frameshift mutation, unlike many others involving the third exon, behaved as a recessive β⁰ defect and not as dominant β-thal mutation.

Keywords:

• β-Thalassemia (β-thal)
• codon 118 (–TT)
• Iraq
• Kurds
• novel mutation

Acknowledgements

We would like to acknowledge with gratitude the feedback and constructive comments offered by Professor Swee Lay Thein of the National Heart, Lung and Blood Institutes, Bethesda, MD, USA, on this novel mutation.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.