Results 31 to 40 of about 822 (100)

Pain and bone disease: a patient’s view

open access: yesThalassemia Reports, 2011
Pain in thalassemia proves to be an emergent issue even if it is not possible to correlate it definitely to bone disease, but we strongly believe that a multidisciplinary approach, may be as decisive in this case as it was in the struggle against ...
L. Brunetta
doaj   +1 more source

MCV和RBC脆性及血红蛋白电泳在产前筛查地中海贫血的价值

open access: yesZhongguo shiyan zhenduanxue, 2009
目的评价平均红细胞体积(MCV)、红细胞(RBC)脆性试验、血红蛋白(Hb)电泳在产前筛查地中海贫血中的价值。方法选取来我院产前检查的经基因诊断确诊的地中海贫血患者140例,正常对照100例,分别进行MCV测定,RBC脆性试验和血红蛋白电泳试验,分析各单项试验及三项试验联合检测地中海贫血的灵敏度、特异度等评价指标。结果MCV、RBC脆性试验、Hb电泳单项检测对地中海贫血诊断的灵敏度及特异度分别为93.6%、89.3%、82.1%及78.0%、92%、97 ...
王晓忠, 曾学辉, 占葆娥
doaj  

Carotid intima-media thickness and oxidative stress markers for assessment of atherosclerosis in children with β thalassemia major

open access: yesThalassemia Reports, 2016
The present study evaluates carotid intimamedia thickness (CIMT) in children with β thalassemia major to assess atherosclerosis and its relation to the underlying proposed causative mechanisms via lipid peroxidation product malondialdehyde (MDA ...
Geetanjali Jindal   +6 more
doaj   +1 more source

540例地中海贫血初筛试验阳性患者基因诊断结果分析

open access: yesZhongguo shiyan zhenduanxue, 2014
地中海性贫血(地贫)是广东地区常见的地方性遗传疾病,已引起社会各界的高度重视。地中海贫血筛查已成为广东地区婚前检查、产前检查的常规项目。目前用于地贫初筛的试验主要有脆性试验和血红蛋白电泳,确证试验为PCR方法进行基因分析。本研究对2013年1月至3月的检测结果进行分析,以探讨初筛试验的性能和本地区地中海贫血的主要型别。1对象与方法1 ...
黄金文, 黄瑞洪
doaj  

Red cell cytogram in CELL-DYN® Sapphire: a ready-to-use function for recognizing thalassemia trait

open access: yesThalassemia Reports, 2016
Single-cell optical analysis of red blood cells provides information on the cellular hemoglobin concentration and volume of red cells. We evaluated the reliability of the typical profiles of the cytogram hemoglobin concentration/ volume (Mie Map ...
Eloísa Urrechaga   +2 more
doaj   +1 more source

血涂片铁染色识别含铁小体发现地中海贫血1例

open access: yesZhongguo shiyan zhenduanxue, 2019
地中海贫血(thalassemia)又称海洋性贫血,在我国多发于华南、西南和长江流域以南[1],常因贫血、黄疸而就诊。本文报道了1例体检患者,因血常规异常行血涂片镜检、铁染色发现Pappenheimer小体即含铁小体,进而识别出地中海贫血 ...
王学军, 续萍, 陈显秋, 曲林琳
doaj  

Pain in thalassemia - an emerging complication

open access: yesThalassemia Reports, 2011
Many thalassemia subjects both transfused Major (TM) and nontransfused Intermedia (TI) suffer from longstanding bone disease, reduced or low bone mass (osteopenia or osteoporosis), fractures and bone pain.
P.J. Giardina
doaj   +1 more source

Thalassemia in Messina: a sociological approach to chronic disease

open access: yesThalassemia 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
doaj   +1 more source

地中海贫血患者尿液电导率的变化分析

open access: yesZhongguo shiyan zhenduanxue, 2012
地中海贫血是一组遗传性溶血性贫血,其特点是由于珠蛋白基因的缺陷使血红蛋白中的珠蛋白肽链有一种或几种合成减少或不能合成,导致血红蛋白的组成成分改变,本组疾病的临床症状轻重不一,大多表现为慢性进行性溶血性贫血。在广西,每年约有17万新生儿为地中海贫血基因携带者 ...
刘铁牛   +4 more
doaj  

Nonsense-mediated decay mechanism is a possible modifying factor of clinical outcome in nonsense cd39 beta thalassemia genotype

open access: yesThalassemia Reports, 2012
Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome.
Maria Concetta Renda   +11 more
doaj   +1 more source

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