Rare beta-thalassemia mutation in a Turkish patient: FSC-36/37 (-T).
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.
Tadmouri
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Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
Tüzmen
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Başak
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D002675:Child, Preschool; D003062:Codon; D005260:Female; D005828:Genetics, Population; D006801:Humans; D009154:Mutation; D014421:Turkey; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D003062:Codon