Rare Pathogenic β⁰-Thalassemia Mutation, Codon 7 (GAG>TAG) (HBB: c.22G>T). Report of the First Two Cases in Albanian Immigrants of Northern Greece

Abstract

We report the hematological data of the codon 7 (GAG>TAG (HBB: c.22G>T) mutation for the first time in two Albanian individuals from the region of Elbasan, who underwent genetic testing due to prenatal counseling and diagnosis for β-thalassemia major (β-TM) anemia. The phenotype was compatible with a typical β⁰-thalassemia (β⁰-thal) carrier but the hematological findings of the mutation has not been previously reported. The mutation involves the conversion of codon 7 GAG (Glu) into a translation termination codon (TAG), involving the replacement of guanine by thymine so that no β chains are produced.

Keywords:

• Albanians
• codon 7
• epidemiology
• thalassemia

Disclosure statement

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