Results 1 to 10 of about 1,741 (84)

Spontaneous fertility in a male thalassemic patient after allogeneic hematopoietic cell transplantation

open access: yesThalassemia Reports, 2017
Patients with thalassemia major who received allogeneic hematopoietic cell transplantation are at increased risk of gonadal insufficiency and reduced fertility due to the toxicity of both the transfusional iron overload and the gonadotoxic effects of ...
Nicoletta Iacovidou   +7 more
doaj   +3 more sources

深圳地区育龄人群地中海贫血基因型分布调查

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2012
【目的】 了解深圳地区育龄人群中α?β地中海贫血基因型的分布情况?【方法】 通过检测育龄男女外周血的平均红细胞容积(MCV)?平均红细胞血红蛋白含量(MCH)和血红蛋白电泳进行地中海贫血的筛查?对于6 276例筛查阳性者用PCR及反向斑点膜条杂交技术(Reverse Dot Blot Hybridization,RDB法)进行α?β地中海贫血基因诊断,未检查到常见突变者进一步行基因突变热点测序?比对检测?【结果】 5 503例进行了α地贫基因诊断,共检出11种α地贫基因型共2 129例 ...
doaj   +1 more source

Two familial cases of Hb Tyne confirm instability as cause of low expression

open access: yesThalassemia Reports, 2017
We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology.
Beverley M. Pullon, Stephen O. Brennan
doaj   +1 more source

Research progress and considerations for thalassemia gene therapy [PDF]

open access: yes
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
core   +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

以轻链沉积病为首发表现的华氏巨球蛋白血症1例

open access: yesZhongguo shiyan zhenduanxue, 2021
华氏巨球蛋白血症(Waldenstr9m’s macroglobulinemia,WM)是以淋巴浆细胞浸润骨髓同时伴血清单克隆性免疫球蛋白IgM增高为特点的惰性成熟B细胞淋巴瘤[1]。该病是一种少见的惰性成熟B细胞淋巴瘤,约占血液系统恶性肿瘤的1%-2%[2]。WM临床表现无特异性,容易漏诊、误诊。WM相关的肾损害在临床中比较少见。为此报道1例以轻链沉积病为首发表现的WM,以提高临床工作者对本病的认识。1临床资料患者,男,61岁。因"眼睑及四肢水肿伴乏力、气短8天 ...
杨婷, 胡晓, 沈卫章
doaj  

Analysis on gene detection results of 3715 cases with thalassemia in Xiamen [PDF]

open access: yes, 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
core  

Incidental detection of a rare hemoglobin variant (Hemoglobin N Seattle) leading to undetectable levels of HbA1c in a diabetic female: a case report

open access: yesThalassemia Reports, 2017
Glycosylated hemoglobin (GHb) is routinely used to monitor glycemic control over past 2-3 months in diabetics. As per the recommendations of the American Association of Clinical Endocrinologist, 2007 values should be maintained below 7% to prevent the ...
Sarita Pradhan   +2 more
doaj   +1 more source

80例贫血患者血红蛋白电泳分析

open access: yesZhongguo shiyan zhenduanxue, 2004
目的 通过对 80例非急性失血性贫血患者血红蛋白电泳分析 ,探讨血红蛋白电泳在不同贫血病例中的意义。方法 采用法国sebia公司HYDRASYS全自动电泳系统对 80例非急性失血性贫血患者 (Hb :37~ 93g/L ,平均 6 8g/L)进行血红蛋白电泳 ,测定HbA2 和HbF值 ,并用BECKMAN COULTER公司Gen’S血球计数仪测定各标本的血液学参数。结果 非缺铁性小细胞性贫血患者与缺铁性贫血组、正常组比较HbA2 明显增高 ,HbF正常或增高 ,MCV值与正常组比较明显减低 ...
沈波, 潘晓
doaj  

多发性骨髓瘤并发肾癌已经存活9年1例

open access: yesZhongguo shiyan zhenduanxue, 2012
患者,赵某某,男,75岁,于2003年7月因"面色苍白、乏力1个月"就诊,经骨穿示:成熟红细胞成缗钱样排列,原浆细胞+幼浆细胞占29%,免疫球蛋白定量:IgG 4.83g/L、IgA 0.51g/L、IgM 0.4g/L,均低于正常,血清蛋白电泳未见明显M峰,血清免疫固定电泳阴性,尿本周蛋白阴性。血常规:血红蛋白73g/L,血小板:130×109/L;肾功能 ...
侯俊杰   +5 more
doaj  

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