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首页> 外文期刊>Turkish Journal of Hematology >Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The ?stanbul Perspective
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Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The ?stanbul Perspective

机译：低色素性小细胞性贫血病例中α-地中海贫血突变的评估：伊斯坦布尔观点

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Objective: Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations couldbe either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause(-20.5, MED, THAI, FIL) α0 -thalassemia. The aim of this study was to determine alpha thalassemia mutations in patients withunsolved hypochromic microcytic anemia and to evaluate types of mutations.Material and Methods: Two hundred six patients with hypochromic microcytic anemia were evaluated for alphathalassemia. A venous blood sample of 2 mL was drawn from each patient for DNA isolation. The samples were investigatedfor α-thalassemia mutations by using the Vienna Lab α-Globlin StripAssay TM commercial kit.Results: Fourteen different mutations were determined in 95 (46.1%) patients. The most common mutation was the 3.7single gene deletion and was found in 37 patients (n=37/95, 39%). Others common mutations were the 20.5 kb double genedeletion (n=20 patients, 21%), MED double gene deletion (n=17 patients, 17.9%), α2 IVS1 (n=10 patients, 10.5%), α2 cd142Hb Koya Dora (n=6 patients, 6.3%), α2 polyA1 (Saudi type) (n=6 patients, 6.3%), 4.2 single gene deletion (n=4 patients, 4.2%),α1 cd14 (n=2 patients, 2.1%), and -FIL mutation (n=2 patients 2.1%), respectively. Hb Adana, Hb Icaria, α2 init cd and α2polyA2 (Turkish type) were found in 1% of the patients (n=1). Seven patients (7.4%) had α-thalassemia triplication. In ourstudy, three mutations (Hb Icaria, α1 cd14, α2 init.cd) were determined firstly in Turkey. Seven mutations (-SEA, -THAI, HbConstant Spring, α2 cd19, α2 cd59, α2 cd125, Hb Paksé) were not determined in this study.Conclusion: Alpha thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemiaespecially in cases without iron deficiency and b-thalassemia carrier state. Genetic testing should be performed for thesuspicious cases. We also recommend that a national database with all mutations in Turkey should be created to screen thealpha thalassemia cost-effectively.
机译：目的：α地中海贫血综合征是由四个α-珠蛋白基因中的一个或多个突变引起的。突变可能更常见地是缺失的或非缺失的。由于一些缺失（3.7和4.2）导致α+地中海贫血，因此一些原因（-20.5，MED，THAI，FIL）α0-地中海贫血。这项研究的目的是确定未溶解的低色素性小细胞性贫血患者的α地中海贫血突变，并评估突变的类型。材料与方法：对206例低色素性小细胞性贫血患者进行了α地中海贫血的评估。从每位患者中抽取2 mL静脉血样本进行DNA分离。使用Vienna Labα-GloblinStripAssay TM商业试剂盒对样本进行了α-地中海贫血突变的研究。结果：在95名患者中确定了14种不同的突变（46.1％）。最常见的突变是3.7单基因缺失，在37例患者中发现（n = 37/95，39％）。其他常见突变包括20.5 kb双基因缺失（n = 20患者，21％），MED双基因缺失（n = 17患者，17.9％），α2IVS1（n = 10患者，10.5％），α2cd142Hb Koya Dora（ n = 6例，6.3％），α2polyA1（Saudi类型）（n = 6例，6.3％），4.2单基因缺失（n = 4例，4.2％），α1cd14（n = 2例，2.1％）和-FIL突变（n = 2例患者，占2.1％）。在1％的患者中发现了Hb Adana，Hb Icaria，α2init cd和α2polyA2（土耳其型）（n = 1）。 7名患者（7.4％）患有α-地中海贫血一式三份。在我们的研究中，首先在土耳其确定了三个突变（Hb Icaria，α1cd14，α2init.cd）。本研究未确定7个突变（-SEA，-THAI，HbConstant Spring，α2cd19，α2cd59，α2cd125，HbPaksé）。结论：在低色性小细胞性贫血的鉴别诊断中应考虑使用α地中海贫血，特别是在无铁的情况下缺乏和β地中海贫血的携带者状态。对可疑病例应进行基因检测。我们还建议应建立一个包含土耳其所有突变的国家数据库，以经济有效地筛查地中海贫血。

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