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首页> 外文期刊>Mediterranean Journal of Hematology and Infectious Diseases >BETA-GLOBIN GENE MUTATIONS IN TURKISH CHILDREN WITH BETA-THALASSEMIA: RESULTS FROM A SINGLE CENTER STUDY
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BETA-GLOBIN GENE MUTATIONS IN TURKISH CHILDREN WITH BETA-THALASSEMIA: RESULTS FROM A SINGLE CENTER STUDY

机译：患有β-地中海贫血的土耳其儿童中的β-球蛋白基因突变：来自单中心研究的结果

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Introduction: The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate β-globin chain mutations and the phenotypic severity of β-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey. Materials and Methods: 106 pediatric patients were analysed for β-globin gene mutations by using DNA analysis. Patients were classified as having β-thalassemia major or β-thalassemia intermedia based on age at diagnosis, transfusion frequency and lowest hemoglobin concentration in between transfusions. Results: There were 106 patients (52.8% female and 47.2% male) with a mean age of 11.2±5 years (1.6 – 22.3 years). Eighty-four (79.2%) patients had β-thalassemia major, whereas the remaining 22 patients (20.8%) were identified as having β-thalassemia intermedia. Overall, 18 different mutations were detected on 212 alleles. The most frequently encountered mutation was IVS I.110 (G>A) (35.3%), followed by Codon 8 del-AA (10.4%), IVS II.1 (G>A) (8%), IVS I.1 (G>A) (7.5%), Codon 39 (C>T) (7.1%) and Codon 5 (-CT) (6.6%), which made up 79.4% of observed mutations. According to present results, IVS I.110 (G>AA) was the most frequent mutation observed in this study, as in other results from Turkey. Evaluation of β-thalassemia mutations in 106 patients with 212 alleles, revealed the presence of homozygous mutation in 85 patients (80.2%) and compound heterozygous mutation in 21 patients (19.8%). The mutations detected in patients with homozygous mutation were IVS I.110 (G>A) (38.8%), Codon 8 del –AA (11.8%), IVS II.1 (G>A) (8.2%) and IVS I.1 (G>A) (8.2%). Observed mutations in the compound heterozygotes were Codon 39 (C>T)/Codon 41-42 (-CTTT) (14.3%), IVS I.110 (G>A)/Codon 39(C>T) (14.3%), IVS I.110 (G>A)/Codon 44(-C) (14.3%), and IVS II.745 (C>G)/ 5’UTR + 22 (G>A) (9.5%). Conclusion: Our hospital is a tertiary referral center that provides care to patients from all over the country, and thus the distribution of mutations observed in the current study is significant in term of representing that of the country as a whole.
机译：简介：β地中海贫血是土耳其常见的遗传性疾病，在这项回顾性研究中，我们的目的是评估我们医院内的β-地中海贫血患者的β-珠蛋白链突变和表型严重性，这是一家为所有患者提供服务的三级中心土耳其地区。材料与方法：通过DNA分析对106名儿科患者的β-珠蛋白基因突变进行了分析。根据诊断时的年龄，输血频率和两次输血之间的最低血红蛋白浓度，将患者分类为重度β地中海贫血或中度β地中海贫血。结果：106例患者（女性52.8％，男性47.2％）平均年龄为11.2±5岁（1.6 – 22.3岁）。八十四名（79.2％）患者患有重度β地中海贫血，而其余22名患者（20.8％）被鉴定为患有中度β地中海贫血。总体而言，在212个等位基因上检测到18个不同的突变。最常见的突变是IVS I.110（G> A）（35.3％），其次是密码子8 del-AA（10.4％），IVS II.1（G> A）（8％），IVS I.1 （G> A）（7.5％），第39位密码子（C> T）（7.1％）和第5位密码子（-CT）（6.6％），占观察到的突变的79.4％。根据目前的结果，与土耳其的其他结果一样，IVS I.110（G> AA）是本研究中观察到的最频繁的突变。对106例212个等位基因患者的β地中海贫血突变进行了评估，发现85例患者（80.2％）存在纯合突变，21例患者（19.8％）存在复合杂合突变。在纯合突变患者中检测到的突变为IVS I.110（G> A）（38.8％），密码子8 del –AA（11.8％），IVS II.1（G> A）（8.2％）和IVSI。 1（G> A）（8.2％）。复合杂合子中观察到的突变是密码子39（C> T）/密码子41-42（-CTTT）（14.3％），IVS I.110（G> A）/密码子39（C> T）（14.3％）， IVS I.110（G> A）/密码子44（-C）（14.3％）和IVS II.745（C> G）/ 5'UTR + 22（G> A）（9.5％）。结论：我们的医院是一家三级转诊中心，为全国各地的患者提供护理，因此，在代表整个国家的情况下，本研究中观察到的突变分布非常重要。

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