Gurbak Mehmet, Sivasli Ercan, Coskun Yavuz, Bozkurt Ali Ihsan, Ergin Ahmet
Department of Pediatrics, Gaziantep University School of Medicine, Gaziantep, Turkey.
Pediatr Hematol Oncol. 2006 Jul-Aug;23(5):419-25. doi: 10.1080/08880010600683400.
Thalassemia is one of the most common hereditary disorders in the Mediterranean region and studies have shown that the prevalence of beta-thalassemia trait is high in the southern part of Turkey. Gaziantep is a city located near this region and, therefore, the authors investigated the prevalence and hematological characteristics of the beta-thalassemia traits in primary school students in Gaziantep. Sixty primary schools were selected from a list of all primary schools using a systematic sampling method. Data were collected by a face-to-face questionnaire. Osmotic fragility testing (OFT) using single-tube 0.36% NaCl solution was used for the screening of beta-thalassemia. Students who were positive in regard to OFT went through a series of testing, including a complete blood count, serum ferritin levels, serum iron, and hemoglobin electroforesis. Chi-square test was used in statistical analysis. Of the 2439 students enrolled to the study from the selected 60 classrooms, 1353 (55.5%) were male and 1086 (44.5%) were female. The OFT was positive in 115 (4.7%) of the participants. CEA and confirmatory HPLC results of the students who were positive OFT indicated that 70 (60.8%) had normal results, 33(28.7%) showed high HbA2 levels, 7 (6.1%) showed high HbA2 and HbF levels, 5(5.2%) showed high HbA2 and Fe-deficiency anemia, and none showed increased HbF levels. The overall prevalence of beta-thalassemia trait was 1.84%. No gender differentials and highest rates among the Kahramanmaras (3.5%) and Sanliurfa (1.7%) born students were the other significant findings of this study. Implementation of a routine carrier-screening program offering genetic counseling, prenatal diagnosis, and selective termination of affected fetuses would be a wise approach to eliminate this disease from the region.
地中海贫血是地中海地区最常见的遗传性疾病之一,研究表明土耳其南部β地中海贫血特征的患病率很高。加济安泰普是位于该地区附近的一座城市,因此,作者调查了加济安泰普小学生中β地中海贫血特征的患病率和血液学特征。采用系统抽样方法从所有小学名单中选取了60所小学。通过面对面问卷调查收集数据。使用单管0.36%氯化钠溶液进行渗透脆性试验(OFT)以筛查β地中海贫血。OFT呈阳性的学生接受了一系列检测,包括全血细胞计数、血清铁蛋白水平、血清铁和血红蛋白电泳。统计分析采用卡方检验。从选定的60个教室招募参加该研究的2439名学生中,1353名(55.5%)为男性,108名(44.5%)为女性。115名(4.7%)参与者的OFT呈阳性。OFT呈阳性学生的CEA和验证性HPLC结果表明,70名(60.8%)结果正常,33名(28.7%)显示HbA2水平升高,7名(6.1%)显示HbA2和HbF水平升高,5名(5.2%)显示HbA2和缺铁性贫血,无一人显示HbF水平升高。β地中海贫血特征 的总体患病率为1.84%。本研究的其他重要发现是没有性别差异,出生于卡拉曼马拉什(3.5%)和桑尼乌法(1.7%)的学生患病率最高。实施一项提供遗传咨询、产前诊断和选择性终止受影响胎儿的常规携带者筛查计划,将是从该地区消除这种疾病的明智方法。