Results 21 to 30 of about 822 (100)

玉林市220例夫妇同型地中海贫血的孕妇羊水及脐血产前胎儿基因诊断结果分析

Zhongguo shiyan zhenduanxue, 2013
地中海贫血（地贫）是由于珠蛋白基因的缺失或点突变所致的遗传性溶血性贫血[1],夫妇同型地中海贫血胎儿患重型地中海贫血的风险高,对玉林市220例夫妇同型地中海贫血的孕妇羊水及脐血产前胎儿基因诊断进行统计分析。1资料与方法 1.1对象夫妇双方同型地中海贫血（地贫）孕中期孕妇,均为2012年1月至7月在玉林市妇幼保健院抽羊水及脐血检测产前基因诊断补助的孕妇,共220例,其中,夫妇双方均为轻型（东南亚型）α地贫81对（81/220 ...
邓国生, 张炬光, 梁毅
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The prevalence and characterization of β-thalassemia trait by using high-performance liquid chromatography among the rural population in West Bengal, India

Thalassemia Reports, 2014
Hemoglobinopathies, common genetic disorders of hemoglobin, can be prevented by population screening and genetic counseling. Identification of these disorders is immensely important epidemiologically and aid in prevention of more serious hemoglobin ...
Suman K. Maji, Prakas K. Mandal, Rajkumar Bera, Tuphan K. Dolai   +3 more
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血红蛋白电泳在婴儿地中海贫血筛查中的应用价值和临床研究

Zhongguo shiyan zhenduanxue, 2017
目的血红蛋白电泳在婴儿地中海贫血筛查中的应用价值和临床研究。方法选取我院从2012年1月到2015年12月儿科做儿童保健的1255例3月龄婴儿做为研究对象。应用全自动电泳分析系统对所有婴儿静脉血行血红蛋白电泳测定。对于测定结果地中海贫血阳性病例实施基因分析。结果 1255例3月龄婴儿静脉血样本中,血红蛋白异常病例共91例,其中疑似α-地中海贫血57例,疑似β-地中海贫血22例,疑似异常血红蛋白12例。基因测定结果提示α-地中海贫血51例,筛查符合率为89.47%;β-地中海贫血19例,筛查符合率为86 ...
肖贞
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Alpha hemoglobinophaties in Rosario, Argentina

Thalassemia Reports, 2016
Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not.
Mara Jorgelina Ojeda, Susana Mabel Perez, Arianna Flavia Pratti, Karina Lucrecia Calvo, Mariana Paula Raviola, María Eda Voss, Gladis Marcela Williams, Nélida Inés Noguera, María Magdalena Carbonell, Mónica Teresita Aixalá, Irma Margarita Bragós   +10 more
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地中海贫血筛查试验在小红细胞低色素性贫血病因鉴别诊断中的应用

Zhongguo shiyan zhenduanxue, 2014
目的探讨红细胞体积散布宽度变异系数（RDW-CV）、红细胞脆性（EFT）、葡萄糖-6-磷酸脱氢酶（G-6-PD）活性和血红蛋白（Hb）电泳在小红细胞性贫血病因鉴别诊断中的作用。方法所有2362例参检人群进行以上地中海初筛试验检测;对参检人群中筛选出的287例小红细胞性贫血的参检者进行血清铁蛋白及地中海贫血基因检测,作为确诊地中海贫血和缺铁性贫血（IDA）的分组依据。对结果做统计学分析。结果20IDA组的RDW-CV显著高于其他组;EFT、G6PD、Hb电泳检测对地中海贫血诊断的灵敏度分别为92.2 ...
张巧玲, 杨永强
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Components of an effective large scale program for the prevention of inherited hemoglobin disorders; the paradigm of Greece

Thalassemia Reports, 2012
Large scale prevention programs for Thalassemia major or Sickle cell disease have already been set up in several places with high frequency of the deleterious genes.
D. Loukopoulos, E. Voskaridou, M. Tsalkani   +2 more
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全自动毛细管电泳技术在筛查地中海贫血中的临床诊断价值

Zhongguo shiyan zhenduanxue, 2014
目的探讨全自动毛细管电泳技术在地中海贫血筛查中的临床诊断价值。方法选取2008年9月—2012年4月我院筛查的380例患者作为研究对象,分别采用琼脂糖凝胶电泳技术和全自动毛细管电泳技术对地中海贫血进行筛查,以通过PCR基因诊断技术进行确诊的结果为参照,比较两种筛查技术的检出率和血常规检查结果,以明确其临床价值。结果采用PCR基因诊断技术在380例患者中共有108例确诊为地中海贫血。对于α-地中海贫血,全自动毛细管电泳技术的检出率为90.91%,明显高于凝胶电泳技术的检出率65.91%;对于β-地中海贫血,
陈星, 初德强, 梁开艳, 江笑文
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Prevention of hemoglobinopathies in Turkey

Thalassemia Reports, 2013
Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. In addition to HbS, 51 abnormal hemoglobins and 42 different beta thalassemia mutations have
Mehmet Akif Çürük, Erdinç Yalın, Kıymet Aksoy   +2 more
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Molecular basis of a-thalassaemia

Thalassemia Reports, 2011
a-thalassaemias is an autosomal recessive disorder, in which there is impaired production of the a-globin chains of haemoglobin. It is associated with microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal ...
J. Traeger-Synodinos
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β-地中海贫血杂合子携带α-地中海贫血1 基因发生率

Zhongshan Daxue xuebao. Yixue kexue ban, 2001
【目的】研究广东地区人群中β-地中海贫血(β-地贫)杂合子携带α-地中海贫血(α-地贫)1 基因的发生率。 【方法】采用反向点杂交法检测β -地贫基因。采用跨越缺失区断裂点PCR 法检测α-地贫1 基因。【结果】在500 例β-地贫 杂合子DNA 标本中, 共检出43 例合并α-地贫1 , 检出率为8 .6 % 。【结论】广东地区β-地贫杂合子中合并α-地贫1 的发生 率为8.6%, 在遗传咨询和产前诊断过程中需要引起重视。
韩俊英, 曾瑞萍, 胡　彬
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