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Beta-thalassemia mutations in Denizli province of Turkey

Source: www.tjh.com.tr
Topic: Thalassemia
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Sort Desciption: Beta-thalassemia is one of the most common genetic disorders in Turkey as well as in several other Mediterranean countries presenting microcytosis and hemolytic anemia. The city of Denizli is located in ...

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Beta-thalassemia is one of the most common genetic disorders in Turkey as well as in several other Mediterranean countries presenting microcytosis and hemolytic anemia. The city of Denizli is located in the inner part of the Aegean geographical region of Turkey. The beta-thalassemia incidence in Denizli province is in between 2.6-3.7% reported by different researchers. According to our results; the IVS-1/nt-110 (G>A) is the most frequent mutation type in our province the same as other geographical regions of Turkey. Here we report also two HbD-Los Angeles/beta-thalassemia combinations, which are HbD-Los Angeles/codon 39 (C>T) and HbD-Los Angeles/IVS-1/nt-1 (G>A), respectively. In conclusion, our preliminary results show the heterogeneity of the beta-thalassemia mutations in the province of Denizli. Key Words: Beta-thalassemia, Mutation, Turkey. ZET Denizli blgesinde beta-talasemi mutasyonlar Beta-talasemi, zellikle Akdeniz lkelerinde ve Trkiyede grlen, mikrositoz ve hemolitik anemi tablosu ortaya koyan en yaygn kaltsal bozukluklardan bir tanesidir. Denizli ili, Ege Blgemizin i kesiminde yer almaktadr. Denizli yresindeki beta-talasemi dalm, eitli aratrclarn verdikleri sonulara gre %2.6-3.7 arasndadr. Elde ettiimiz sonularda blgemizde en sk grlen beta-talasemi mutasyonu IVS-1/nt-110 (G>A) olarak saptanmaktadr. Ayrca bu almamzda iki tane HbD-Los Angeles/beta-talasemi kombinasyonu rapor edilmektedir. Bu kombinasyonlar sras ile HbD-Los ...

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