Results 11 to 20 of about 897 (148)
The research of the detection of thalassaemia multiple mutations by next-generation sequencing technology [PDF]
, 2015 地中海贫血又称珠蛋白生成障碍性贫血，早期的病例来自地中海地区，故称为地中海贫血，是世界范围内影响最大的单基因病之一，遵循孟德尔遗传定律。该病是由珠蛋白基因的缺失或点突变所致，根据其变异的肽链可分为α地贫和β地贫。由于其基因缺陷的复杂、多样，使缺乏的珠蛋白链类型、数量、临床症状变异较大。临床上对中、重度地中海贫血无行之有效的治疗方法，给社会、家庭、个人带来了沉重的经济及精神负担。故有效检出地中海贫血患者、进行婚前孕前指导、产前诊断、避免地中海贫血患儿的出生，有着极其重要的社会意义 ...
成明
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Cardiac failure in β-thalassemia: diagnosis, prevention and management [PDF]
, 2011 Heart failure always represented and still remains the leading cause of mortality in β (β)-thalassemia, despite the therapeutic advances and the considerable amelioration of prognosis accomplished over the last decades.
A. Aessopos, D. Farmakis, V. Berdoukas
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Overview of current and emerging issues in endocrinological complications of thalassaemia
Thalassemia 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
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Analysis on gene detection results of 3715 cases with thalassemia in Xiamen [PDF]
, 2015 目的:调查厦门地区地中海贫血基因的携带率、基因突变类型及其频率分布。方法:对2013年1月~2014年8月在该院住院或门诊治疗的患者及健康体检人员共3 715例进行地中海贫血基因检测,对检测结果进行统计分析。结果:检测出静止型α-地中海贫血200例(5.4%),中间型α-地中海贫血44例(1.2%),标准型α-地中海贫血1 213例(32.6%),β-地中海贫血787例(21.2%),α-合并β-地中海贫血69例(1.8%)。结论:不同就诊对象地中海贫血检出率具有明显差异 ...
刘洪雪 +5 more
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Analysis of 21 cases of rare β-thalassemia CD5(-CT) [PDF]
Objective To analyze the genotypes and hematological characteristics of individuals carrying the rare β-thalassemia CD5(-CT) (HBB: c.17_18delCT). Methods Gene sequencing was employed to detect the rare β-thalassemia genotypes, followed by a retrospective
GE Yiyuan +3 more
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, 2020 【目的】分析中山大学孙逸仙纪念医院的重型β-地中海贫血（β-TM）患者青春发育特点及影响因素。【方法】通过对42 例年龄≥10 岁β-TM 患者进行随访资料回顾、问卷调查、体格检查及实验室检查等评估青春发育状态，分析影响β-TM 患者青春发育的可能因素。【结果】24 例（57.14%）β-TM 患者出现青春发育异常，女性以乳房不发育、原发性闭经及男性以睾丸不增大、阴茎短小为主要表现。其中β0β0 基因型、脾切除后、维生素D 缺乏或者伴有糖尿病的β-TM 患者的青春发育异常发生率均显著增高 ...
侯乐乐 +5 more
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Glutathione S transferase polymorphisms influence on iron overload in β-thalassemia patients [PDF]
, 2013 In patients with β-thalassemia iron overload that leads to damage to vital organs is observed. Glutathione S transferase (GST) enzymes have an antioxidant role in detoxification processes of toxic substances. This role is determined genetically.
Aurelio Maggio +5 more
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Thalassemia 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
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Research progress and considerations for thalassemia gene therapy [PDF]
Traditional treatment modalities for thalassemia include regular blood transfusions and allogenic hematopoietic stem cell transplantation (allo-HSCT). In recent years, autologous transplantation of gene-modified hematopoietic stem cells has emerged as a ...
GAO Xinjie, LIU Yan, WANG Dawei
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Haemoglobinopathy prevention program in Turkey
Thalassemia 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
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