土耳其阿迪亚曼省β地中海贫血特征和异常血红蛋白的患病率。
Prevalence of beta-thalassemia trait and abnormal hemoglobins in the province of Adıyaman, Turkey.
作者信息
Genc Ahmet, Tastemir Korkmaz Deniz, Urhan Kucuk Meral, Rencuzogullari Eyup, Atakur Selman, Bayram Suleyman, Onderci Muhittin, Koc Tuba, Aslan Sinan, Mutalip Abdullah, Faruk Muslum, Sevgiler Yusuf, Tuncdemir Aygul
机构信息
Vocational School of Health Services, Adıyaman Univesity, Adıyaman, Turkey.
出版信息
Pediatr Hematol Oncol. 2012 Oct;29(7):620-3. doi: 10.3109/08880018.2012.713085. Epub 2012 Aug 16.
BACKGROUND/AIMS: Thalassemia is one of the most common hereditary disorders in Turkey. The aim of this study was to determine the prevalence of the beta-thalassemia trait and abnormal hemoglobins in the province of Adıyaman in Turkey.
METHODS
The study included 3571 high school students of both sexes; aged 12-22 (mean 16.59 ± 1.34). After they received information about thalassemia, they were screened for beta-thalassemia and abnormal hemoglobin using complete blood count (CBC) and quantification of hemoglobin. Hemoglobin was fractionated using HPLC.
RESULTS
The beta-thalassemia trait was found in 38 students (1.06%), and abnormal hemoglobin in seven students (0.20%). Of the latter, four carried HbD Los Angeles, two HbS, and one HbE-Saskatoon.
CONCLUSION
The prevalence of the beta-thalassemia trait and abnormal hemoglobin in the province of Adıyaman is low, compared to the rest of Turkey. Our results seem to reflect the heterogeneity of beta-thalassemia in the province of Adıyaman and may be of value for genetic counseling and premarital screening.
背景/目的：地中海贫血是土耳其最常见的遗传性疾病之一。本研究的目的是确定土耳其阿迪雅曼省β地中海贫血特征和异常血红蛋白的患病率。
方法
该研究纳入了3571名年龄在12 - 22岁（平均16.59±1.34）的男女高中生。在他们了解了地中海贫血的相关信息后，使用全血细胞计数（CBC）和血红蛋白定量对他们进行β地中海贫血和异常血红蛋白筛查。血红蛋白通过高效液相色谱法（HPLC）进行分离。
结果
38名学生（1.06%）被发现有β地中海贫血特征，7名学生（0.20%）有异常血红蛋白。在后者中，4人携带HbD洛杉矶型，2人携带HbS，1人携带HbE - 萨斯卡通型。
结论
与土耳其其他地区相比，阿迪雅曼省β地中海贫血特征和异常血红蛋白的患病率较低。我们的结果似乎反映了阿迪雅曼省β地中海贫血的异质性，可能对遗传咨询和婚前筛查有价值。
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