Results 1 to 10 of about 897 (148)
Thalassemia in Messina: a sociological approach to chronic disease [PDF]
Thalassemia Reports, 2014 Changing the care along with improved treatment, have altered the life of thalassemia patients, one of the world’s most common genetic diseases (Thalassemia International Federation; http://www.thalassemia.org.cy). The new demography of the disease, with
Silvia Carbone
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Zhongshan Daxue xuebao. Yixue kexue ban, 1981 血红蛋白(简称Hb)病与6-磷酸葡萄糖脱氢酶缺陷(以下简称G6PD缺陷)在我国均多发于两广、川地区。其中重型β海洋性贫血(Cooley’s贫血)、血红蛋白H病、Hb-E综合征及异常Hb、G6PD缺陷等已有不少报道。国内已报告广东地区Hb-H病,α海洋性贫血基因发生率。为了进一步了解广东地区Hb病发生率及Hb病与G6PD缺陷之间的遗传关系,并探索此二种遗传性疾病的遗传规律,作者等在广东中山县石歧镇对当地部份小儿、成人中进行了调查。现将结果报道如下。
黄绍良
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Zhongguo shiyan zhenduanxue, 2021 目的了解渝东北开州地区地中海贫血基因型的分布情况。方法利用GAP-PCR方法和PCR结合反向斑点杂交法检测分析地中海贫血基因分型,回顾性分析2015年-2017年重庆市开州区人民医院427例地中海贫血基因型阳性结果。结果 3534例标本中检出地中海贫血阳性患者427例,检出率为12.1%,其中α地中海贫血182例,β地中海贫血234例。α地中海贫血以--SEA/αα缺失基因型为主（55.5%）,其次是-α3.7/αα缺失基因型（37.4%）,-α4.2/αα缺失基因型（7.1 ...
王美玉, 邱渊, 郑虎
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Transfusion regimens in thalassemia intermedia
Thalassemia Reports, 2011 Thalassemia intermedia (TI) is a heterogeneous disease, in terms of both clinical manifestations and underlying molecular defects. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from early childhood.
Z. Karakas
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早产儿脑白质损伤核磁共振成像定量评估与血细胞参数和围产期因素的相关性分析 [PDF]
, 2021 目的探讨早产儿脑白质损伤（WMD）的围产期高危因素及血细胞参数的相关性，为早期发现并规避早产儿WMD的发生提供科学依据。方法采用回顾性病例对照研究设计，收集南方医科大学附属深圳市妇幼保健院新生儿科2018年1月1日至 2020 年12月31日经核磁共振检查诊断为WMD的早产儿85例为病例组，并以胎龄为匹配条件选取同期115例经核磁共振检查未诊断WMD患者作为对照组。采用SPSS22.0统计学软件进行围产期相关因素的单因素分析、血细胞参数单因素分析、构建多因素Logistic回归模型分析WMD的相关因素 ...
杨默, 钟俊炎, 陈雪雨
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Coagulation and thrombotic risk in thalassemia intermedia
Thalassemia Reports, 2011 As the life expectancy of β-thalassemia patients has markedly improved over the last few decades, several manifestations are increasingly recognized.
A.T. Taher, K.M. Musallam
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Phenotype-genotype correlation in β-thalassemia
Thalassemia Reports, 2011 The clinical manifestations of β-thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable phenotypic
R. Galanello +4 more
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MRI-T2*检测β-重型地中海贫血心、肝、胰铁沉积的临床价值 [PDF]
, 2020 目的MRI-T2*定量评价β-重型地中海贫血（β-TM）患者心肌、肝脏、胰腺铁沉积程度，探讨心肌铁沉积与肝脏、胰腺铁沉积的关系。方法回顾性分析2014年5月至2016年1月期间在我院行心脏、肝脏、胰腺MRI-T2*检查的109例β-TM患者的临床、实验室和MRI资料，采用Spearman相关性分析探讨心肌T2*值与肝脏、胰腺T2*值之间关系。将心肌、肝脏铁沉积的患者纳入A组（n=32），仅肝脏铁沉积、而心肌铁含量正常的患者纳入B组（n=69），将心肌、胰腺铁沉积的患者纳入C组（n=34），仅胰腺铁沉积 ...
杨绮华 +4 more
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Zhongguo shiyan zhenduanxue, 2021 地中海贫血是珠蛋白基因突变致单基因常染色体隐性遗传性疾病,由于珠蛋白生物合成受阻、产量缺如或不足所致[1-3],中国长江以南地区为高发区,沿海地区地中海贫血检出率更高[4-5]。为了解北部湾居民地中海贫血异常基因分布状况,对2018年月1-12月在钦州市第二人民医院就诊北部湾居民患者423例按性别分组统计分析如下。
陈良军
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Thalassemia Reports, 2012 Several attempts have been made previously to differentiate β-thalassaemia trait (BTT) from other microcytic anaemias using formulae with red cell (RC) parameters. Presently available formulae have low sensitivity and specificity.
Ahangama Arachchige Nilanga Nishad +3 more
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