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首页> 外文期刊>Sao Paulo Medical Journal >beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations
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beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations

机译：一名患有-101（C> T）和39位密码子（C> T）突变的巴西患者中度β地中海贫血

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CONTEXT: We verified molecular alterations in a 72-year-old Brazilian male patient with a clinical course of homozygous beta-thalassemia intermedia, who had undergone splenectomy and was surviving without regular blood transfusions. The blood cell count revealed microcytic and hypochromic anemia (hemoglobin = 6.5 g/dl, mean cell volume = 74 fl, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A2 = 6.78% and hemoglobin A = 79.4%. OBJECTIVE: To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. DESIGN: Molecular inquiry into the mutations possibly responsible for the clinical picture described. SETTING: The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. PROCEDURES: DNA extraction was performed on the patient's blood samples. The polymerase chain reaction (PCR) was done using five specific primers that amplified exons and the promoter region of the beta globin gene. The samples were sequenced and then analyzed via computer programs. RESULTS: Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T). CONCLUSIONS: This case represents the first description of 101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.
机译：背景：我们证实了一名72岁的巴西男性患者的分子改变，该患者患有中间纯合β地中海贫血的临床病程，该患者接受了脾切除术并且没有定期输血就可以生存。血细胞计数显示小细胞和低色素性贫血（血红蛋白= 6.5 g / dl，平均细胞体积= 74 fl，平均细胞血红蛋白= 24 pg），血红蛋白电泳显示胎儿血红蛋白= 1.3％，血红蛋白A2 = 6.78％，血红蛋白A = 79.4％。目的：鉴定中度β地中海贫血症状患者的突变。设计：对可能导致所述临床症状的突变进行分子研究。地点：巴西坎皮纳斯Estadual de Campinas大学的结构分子生物学和基因工程中心。程序：对患者的血液样本进行DNA提取。使用五个扩增外显子和β珠蛋白基因启动子区域的特异性引物进行聚合酶链反应（PCR）。对样品进行测序，然后通过计算机程序进行分析。结果：发现了两种导致该疾病的突变：-101（C> T）和第39密码子（C> T）。结论：该病例代表巴西人群中101（C> T）突变的首次描述，并且与良性临床过程有关。

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