AI Article Synopsis
- This study reports the discovery of a rare beta-thalassemia mutation (-T) at codons 36/37 in a Turkish patient with beta-thalassemia major.
- The patient, originally from Adana, underwent molecular analysis showing compound heterozygosity with a common mutation found in the eastern Mediterranean.
- The research suggests potential migration pathways for the mutation, indicating it may have originated from northern Iran or eastern Anatolia and traveled through regions during the Ottoman Empire.
Article Abstract
We describe the rare beta-thalassemia mutation at codons 36/37 (-T) for the first time in Turkey. The propositus is a Turkish patient with beta-thalassemia major who originated in Adana but now resides in Istanbul. Molecular analysis revealed a compound heterozygosity for the common eastern Mediterranean mutation IVS-I-110 (G-A) along with mutation FSC-36/37 (-T). The FSC-36/37 (-T) mutation could have arisen somewhere in the region, including northern Iran and the inaccessible mountainous region of eastern Anatolia. The mutation could have followed two migration routes during the time of Ottoman rule, the first being to Azerbaijan and the second, probably a more recent one, passing through southeastern Anatolia and reaching southern Bulgaria.
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