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土耳其加济安泰普市区β地中海贫血特征的患病率及血液学特征

Prevalence and hematological characteristics of beta-thalassemia trait in Gaziantep urban area, Turkey.

作者信息

Gurbak Mehmet, Sivasli Ercan, Coskun Yavuz, Bozkurt Ali Ihsan, Ergin Ahmet

机构信息

Department of Pediatrics, Gaziantep University School of Medicine, Gaziantep, Turkey.

出版信息

Pediatr Hematol Oncol. 2006 Jul-Aug;23(5):419-25. doi: 10.1080/08880010600683400.

Abstract

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.

摘要

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。

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