Article
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.
Hemoglobin - 1 Mar 2022
Zarkada Evangelia, Yfanti Eleni, Teli Aikaterini, Balassopoulou Angeliki, Sinopoulou Klio, Theodoridou Stamatia
Abstract excerpt
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...
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