First observation of Hb Tunis [beta124(H2)Pro>Ser] in Turkey.
Hb Tunis [beta124(H2)Pro>Ser] was reported from Tunisia in 1988. This hemoglobin variant was detected by isoelectric focusing moving just ahead of Hb A. It cannot be identified by standard hemoglobin electrophoresis due to its similar mobility to Hb A. It has normal stability and oxygen affinity and does not produce any clinical symptoms. Here, we report a heterozygous Hb Tunis [beta124(H2)Pro>Ser] case discovered for the first time in Turkey in a premarital screening program. This hemoglobin variant can be identified with high performance liquid chromatography analysis confirmed with DNA sequencing. We emphasize in our study the importance of an interdisciplinary collaborative study at the provincial basis for the success of the hemoglobinopathy control program.
Aylin
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Köseler
Hasan
H
Koyuncu
Onur
O
Öztürk
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Bahadır
Sanem
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Demirtepe
Ayfer
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Atalay
Pamukkale Üniversitesi Tıp Fakültesi Biyofizik Anabilim Dalı (Morfoloji) 20200 Denizli, Turkey Phone: +90 258 211 90 27 Office: +90 258 296 24 87 E-mail: eatalay@pau.edu.tr.
Erol
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Ömer Atalay