Evaluation of hemoglobinopathy carrier rates in Bilecik hemoglobinopathy diagnosis centre

S. Çelik
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Abstract

DOI: 10.4328/JCAM.5862 Received: 09.04.2018 Accepted: 08.05.2018 Published Online: 15.05.2018 Printed: 01.03.2019 J Clin Anal Med 2019;10(2): 170-2 Corresponding Author: Saadet Celik, Medical Biochemistry, Bilecik Public Health Laboratory, Bilecik, Turkey. GSM: +905300668034 E-Mail: saadetkader@hotmail.com ORCID ID: 0000-0003-0646-946X Abstract Aim: Hemoglobinopathies are important public health problems with high mortality and morbidity rates. Additionally, they are amongst the most common inherited disorders in Turkey and can be preventable with the help of premarital screening programs. The aim of the present study was to analyse the hemoglobinopathy test results in individuals who applied to the hemoglobinopathy diagnosis centre in Bilecik/Turkey. Material and Method: In our study, hemoglobinopathy test results from January 2006 to April 2017 in Bilecik Hemoglobinopathy Diagnostic Centre were evaluated retrospectively. Blood samples from individuals who applied for pre-marriage counselling and general screening were collected and hemoglobinopathies (Hb A0, A1C, A2, F, C, D, E, and S) were screened by using High Performance Liquid Chromatography (HPLC). Results: A total of 23,676 people were included in the present study. Beta-thalassemia trait was detected in 1,317 (5.5%) and, HbA2 at a level over 3.5% was detected in 1,177 (5.0%). Additionally, elevated HbF levels were over 2% of individuals (324/23,676). The positivity of hemoglobin D and HbS traits were 0.06% (15 patients) and 0.01% (two patients) respectively. Discussion: In the present study the positive rate of HbA2 was 4.6%. When comparedThis finding was higher than the overall average rate in Turkey. The rate is similar to those in studies from Istanbul and the Mediterranean region, but it is higher than in studies from Bursa and Kocaeli. Our results indicated that premarital hemoglobinopathy screening should be continued for all partners planning to get married and for each individual in Bilecik who may potentially have a hemoglobinopathy trait.
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比勒西克血红蛋白病诊断中心血红蛋白病携带者率评价
DOI: 10.4328 / JCAM.5862收稿日期:09.04.2018收稿日期:08.05.2018出版日期:15.05.2018印刷日期:01.03.2019 J clinical Anal Med 2019;10(2): 170-2通讯作者:Saadet Celik,医学生物化学,Bilecik公共卫生实验室,Bilecik,土耳其。摘要目的:血红蛋白病是一种重要的公共卫生问题,具有较高的致死率和发病率。此外,它们是土耳其最常见的遗传性疾病之一,可以通过婚前筛查方案加以预防。本研究的目的是分析在Bilecik/土耳其血红蛋白病诊断中心申请的个体的血红蛋白病检测结果。材料与方法:对Bilecik血红蛋白病诊断中心2006年1月至2017年4月的血红蛋白病检测结果进行回顾性评价。采集申请婚前咨询和一般筛查的患者血样,采用高效液相色谱法(HPLC)对血红蛋白病变(Hb A0、A1C、A2、F、C、D、E、S)进行筛查。结果:本研究共纳入23,676人。1317例(5.5%)检测到β -地中海贫血性状,1177例(5.0%)检测到HbA2水平超过3.5%。此外,HbF水平升高的个体超过2%(324/23,676)。血红蛋白D和HbS的阳性分别为0.06%(15例)和0.01%(2例)。讨论:本研究中HbA2阳性率为4.6%。相比之下,这一发现高于土耳其的整体平均水平。这一比例与伊斯坦布尔和地中海地区的研究结果相似,但高于布尔萨和科卡埃利的研究结果。我们的研究结果表明,婚前血红蛋白病筛查应该继续对所有计划结婚的伴侣和每个可能有血红蛋白病特征的人进行筛查。
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Journal of Clinical and Analytical Medicine
Journal of Clinical and Analytical Medicine MEDICINE, GENERAL & INTERNAL-
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期刊介绍: The Annals of Clinical and Analytical Medicine is an international open-access journal containing peer-reviewed high-quality articles on clinical medicine in the areas of all research study types, reviews, and case reports. Our journal has become an important platform with the help of language support services, which make it easier for writers who have English as their second language to share their clinical experiences with the world.
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