Rare Pathogenic beta(0)-Thalassemia Mutation, Codon 7 (GAG > TAG) (HBB: c.22G > T). Report of the First Two Cases in Albanian Immigrants of Northern Greece

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 beta-thalassemia major (beta-TM) anemia. The phenotype was compatible with a typical beta(0)-thalassemia (beta(0)-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 beta chains are produced.