The Genotypes of α-Thalassemia and Genotypes Frequencies of α-Thalassemia in Hatay

Abstract

OBJECTIVE: α-thalassemia, characterized by a decreased or lack of synthesis of α-globin chains of hemoglobin, is very common disease in the world. α-globin gene is located at the short arm of chromosome 16 16p 13.3 and contains mutations including deletions and single point mutations α3.7, αMED, α COD8 -AA , 1-5nt IVS α2, α2 poly A1 mutations . In this study, we aimed to determine the frequency of α-thalassemia gene mutations in Hatay region. METHODS: To do so, study population who referred to Medical Genetic Department of Mustafa Kemal University, Medical School for either detection of α-thalassemia gene mutations between 2012-2013, 407 individuals with α-thalassemia gene mutations were includud to the study. Molecular screening of the α-globin gene was carried out by an α-globin strip assay Vienna Lab Diagnostics, Vienna, Austria which is based on multiplex PCR Polymerase Chain Reaction for specific amplification.RESULTS: According to this, it has found that the frequencies of α3.7, αMED, α COD8 -AA , 1-5nt IVS α2, α2 poly A1 mutations are 29.48%, 5.16%, 0.25%, 0.25%, 0.25%, respectively.CONCLUSION: Consequently, the frequency of mutation affects ethnic backround and geographic locations. Hatay region also has a unique origin and so, the frequencies of α-thalassemia gene mutations has unique characteristic.

Keywords

• α, -thalassemia, α-globin, Hatay, Turkey

Hataydaki α-Talasemi Genotipleri ve α-Talasemi Genotip Frekansı

Abstract

AMAÇ: Dünyada çok yaygın olarak görülen α-talasemi, hemoglobindeki α-globin zincirinin eksikliği ya da azalması ile karakterize olan bir hastalıktır. α-globin geni 16. kromozomun kısa kolu üzerinde 16p 13.3 bulunur ve delesyon ve tek nokta mutasyonu şeklinde α3.7, αMED, α COD8 -AA , α2 IVS 1-5nt, α2 poly A1 mutasyonları mutasyonlar içerir. Biz bu çalışmada Hatay bölgesindeki α-talasemi gen mutasyonlarının frekansını belirlemeyi amaçladık. YÖNTEMLER: Bu amaçla, 2012-2013 tarihleri arasında Mustafa Kemal Üniversitesi, Tıp Fakültesi, Tıbbi Genetik AD’a gelen α-talasemili 407 hasta tarandı. α-globin geninin moleküler analizi multipleks PCR Polimeraz Zincir Reaksiyonu temelli α-globin Strip Assay yöntemi Vienna Lab Diagnostics, Vienna, Austria ile gerçekleştirildi. BULGULAR: Buna göre, bölgemizdeki α3.7, αMED, α COD8 -AA , α2 IVS 1-5nt, α2 poly A1mutasyonlarının frekansları sırası ile %29.48, %5.16, %0.25, %0.25, %0.25 şeklinde bulunmuştur. SONUÇ: Sonuç olarak, mutasyonların görülme sıklığı etnik kökenden ve coğrafik bölgelerden etkilenmektedir. Hatay bölgesi de kendine has bir etnik kökene sahiptir ve bu yüzden α-talasemi gen mutasyonları frekansları da kendine has bir özelliktedir.

Keywords

• α, -talasemi, α-globin, Hatay, Türkiye

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