AI Article Synopsis
- The study presents the hematological findings of a new mutation at codon 7 (c.22G>T) in two Albanian individuals from Elbasan, linked to β-thalassemia major (β-TM) anemia.
- This novel mutation changes the amino acid sequence by converting GAG (coding for Glutamic acid) to TAG (a stop codon), halting the production of β chains.
- Although the participants showed a typical carrier phenotype for β-thal, the specific hematological implications of this mutation had not been previously documented.
Article Abstract
We report the hematological data of the codon 7 (AG>AG (: 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 β-thalassemia (β-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.
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| http://dx.doi.org/10.1080/03630269.2022.2096462 | DOI Listing |
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