Results 11 to 20 of about 822 (100)

渝东北开州地区地中海贫血基因型调查统计分析

open access: yesZhongguo 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
doaj  

Transfusion regimens in thalassemia intermedia

open access: yesThalassemia 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
doaj   +1 more source

Coagulation and thrombotic risk in thalassemia intermedia

open access: yesThalassemia 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
doaj   +1 more source

Phenotype-genotype correlation in β-thalassemia

open access: yesThalassemia 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
doaj   +1 more source

北部湾居民地中海贫血临床基因检测423例分析

open access: yesZhongguo 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
doaj  

The Thal-index with the BTT prediction.exe to discriminate β-thalassaemia traits from other microcytic anaemias

open access: yesThalassemia 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
doaj   +1 more source

Overview of current and emerging issues in endocrinological complications of thalassaemia

open access: yesThalassemia Reports, 2011
Clinical advances in the treatment of thalassaemia major (TM) patients have helped to increase substantially the life expectancy of patients. The TM patients today represent the first generation of adult thalassemics.
V. de Sanctis de Sanctis
doaj   +1 more source

Spectrum of types of thalassemias and hemoglobinopathies: study in a tertiary level children hospital in Bangladesh

open access: yesThalassemia Reports, 2017
Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi ...
Waqar A. Khan   +3 more
doaj   +1 more source

Haemoglobinopathy prevention program in Turkey

open access: yesThalassemia Reports, 2011
Thalassemia and abnormal haemoglobins are a serious health problem in Turkey. Very important steps for toward preventing thalassemia have been taken in Turkey by Ministry of Health (MOH), Turkish National Haemoglobinopathy Council (TNHC) and Thalassemia ...
D. Canatan
doaj   +1 more source

缺铁性贫血对不同基因型α地中海贫血筛查的影响

open access: yesZhongguo shiyan zhenduanxue, 2016
目的探讨缺铁性贫血对不同基因型α地中海贫血筛查的影响,评估HbA2与红细胞各指标在鉴别缺铁性贫血和各种基因型α地中海贫血中的作用。方法严格筛选正常人群样本、α地中海贫血患者样本、缺铁性贫血患者样本和α地中海贫血合并缺铁性贫血患者样本,进行血红蛋白电泳、血常规、铁蛋白和地中海贫血基因诊断,统计分析不同检测指标在各样本组差异。结果缺铁性贫血的HbA2平均水平低于α地中海贫血,HbH病患者HbA2水平低于缺铁性贫血。鉴别正常人群和单纯α地中海贫血时,MCH比MCV有更高的敏感性。鉴别α地中海贫血和缺铁性贫血时,
陈卫东, 周宇, 王秋
doaj  

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