Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan

Abstract

Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with data of the heterozygous parents.

Keywords:

• Codon 14 (+T)
• HBB: c.44_45insT
• frameshift mutation
• premature stop codon

Disclosure statement

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