ISSN: 1300-7777 E-ISSN: 1308-5263
Beta globin gene cluster haplotypes of abnormal hemoglobins observed in Turkey [Turk J Hematol]
Turk J Hematol. 2007; 24(4): 146-154

Beta globin gene cluster haplotypes of abnormal hemoglobins observed in Turkey

Onur Öztürk1, Ayfer Atalay1, Aylin Köseler1, Anzel Özkan1, Hasan Koyuncu2, Jülide Bayram3, Sanem Demirtepe1, Kıymet Aksoy4, Erol Ömer Atalay1
11department Of Biophysics, Pamukkale University, Faculty Of Medicine, Denizli, Turkey
22turkish Ministry Of Health, Denizli Hemoglobinopathy Center, Denizli, Turkey
3Turkish Ministry Of Health, Kocaeli Hemoglobinopathy Center, İzmit- Kocaeli, Turkey
4Department Of Biochemistry, Çukurova University Faculty Of Medicine, Adana, Turkey

Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest. We studied the beta globin gene cluster haplotypes for the six different abnormal hemoglobins which are Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon and Hb J-Iran observed in Turkey. In this study, we report two novel haplotypes [- + + - - - +] and [- + - + + +] in association with the Hb G-Coushatta mutation. The haplotype for the Hb J-Iran is also reported as [- + - + + + +] for the first time in world populations from Turkey.

Keywords: Abnormal hemoglobins, haplotype, Turkey


Türkiye ’de gözlenen anormal hemoglobinlerde beta globin gen ailesi haplotipleri

Onur Öztürk1, Ayfer Atalay1, Aylin Köseler1, Anzel Özkan1, Hasan Koyuncu2, Jülide Bayram3, Sanem Demirtepe1, Kıymet Aksoy4, Erol Ömer Atalay1
11department Of Biophysics, Pamukkale University, Faculty Of Medicine, Denizli
2Turkish Ministry Of Health, Denizli Hemoglobinopathy Center, Denizli
3Turkish Ministry Of Health, Kocaeli Hemoglobinopathy Center, İzmit- Kocaeli
4Department Of Biochemistry, Çukurova University Faculty Of Medicine, Adana

Türkiye ’de Hb S ’in ilk kez Aksoy tarafından belirlenmesinden sonra gözlenen anormal hemoglobinlerin sayısında büyük artış olmuştur. Beta globin gen ailesi haplotipleri çalışılan mutasyonun genetik kökeninin belirlenmesinde kullanılmaktadır. Çalışmamızda; ülkemizde gözlenen Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon ve Hb J-Iran olmak üzere toplam altı anormal hemoglobin mutasyonunda beta globin gen ailesi haplotipleri incelenmiştir. Bu çalışmada; Hb G-Coushatta mutasyonu ile ilintili olan, Dünyada ve Türkiye ’de bildirilmemiş iki haplotip (-++---+ ve -+-++++) saptanmıştır. Hb J-Iran ile ilgili olarak ise ilk kez haplotip türü (-+-++++) gösterilmektedir.

Anahtar Kelimeler: anormal hemoglobinler, haplotip, Türkiye


Onur Öztürk, Ayfer Atalay, Aylin Köseler, Anzel Özkan, Hasan Koyuncu, Jülide Bayram, Sanem Demirtepe, Kıymet Aksoy, Erol Ömer Atalay. Beta globin gene cluster haplotypes of abnormal hemoglobins observed in Turkey. Turk J Hematol. 2007; 24(4): 146-154

Corresponding Author: Erol Ömer Atalay, Türkiye


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