Genc Ahmet, Tastemir Korkmaz Deniz, Buyukleyla Mehmet, Celiker Murat
Vocational School of Health Services, Adıyaman University, Adıyaman, Turkey.
Hemoglobin. 2012;36(2):131-8. doi: 10.3109/03630269.2012.658128. Epub 2012 Feb 22.
Thalassemia is one of the most common hereditary disorders in the Mediterranean region. We report here the results of a premarital screening carried out in Adıyaman in the southeastern region of Turkey, a region with a hitherto unknown incidence of β-thalassemia (β-thal). In order to detect β-thal carrier frequency and genotypes of carriers from the city of Adıyaman, Turkey, both high performance liquid chromatography (HPLC) and the red blood cell counts of 1616 people who applied for premarital tests were analyzed. Blood cell counts were measured by a cell counter and the hemoglobin (Hb) fractionation was carried out by HPLC. The frequency of β-thal carriers in the city of Adıyaman was 1.91% and the frequency of abnormal Hbs was 0.07%. We report 28 chromosomes of β-thal traits with 10 different mutations, including the first report of codon 17 (AAG>TAG) in Turkey and one individual who was heterozygous for Hb D-Los Angeles [β121(GH4)Glu→Gln, GAA>CAA]. This study was the first to be performed on the frequency and molecular pathology of β-thal mutations in Adıyaman in the southeastern region of Turkey. We report that the prevalence of the thalassemia trait is similar in all regions of our country, but the prevalence of mutation heterogeneity varies from region to region.
地中海贫血是地中海地区最常见的遗传性疾病之一。我们在此报告在土耳其东南部的阿迪雅曼进行的一项婚前筛查的结果，该地区此前β地中海贫血（β-地贫）的发病率未知。为了检测来自土耳其阿迪雅曼市的β-地贫携带者频率及携带者的基因型，对1616名申请婚前检查者的高效液相色谱（HPLC）和红细胞计数进行了分析。血细胞计数通过血细胞计数器测量，血红蛋白（Hb）分级分离通过HPLC进行。阿迪雅曼市β-地贫携带者的频率为1.91%，异常Hb的频率为0.07%。我们报告了28条具有10种不同突变的β-地贫特征染色体，包括土耳其首次报道的密码子17（AAG>TAG）突变，以及1例Hb D-洛杉矶杂合子个体[β121（GH4）Glu→Gln，GAA>CAA]。本研究首次对土耳其东南部阿迪雅曼市β-地贫突变的频率和分子病理学进行了研究。我们报告我国所有地区地中海贫血特征的患病率相似，但突变异质性的患病率因地区而异。
