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We report the hematological data of the codon 7 ( G AG&gt; T AG ( HBB : c.22G&gt;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 β 0 -thalassemia (β 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 β chains are produced.

hemoglobin

Rare Pathogenic β 0 -Thalassemia Mutation, Codon 7 ( G AG&gt; T AG) ( HBB : c.22G&gt;T). Report of the First Two Cases in Albanian Immigrants of Northern Greece