首页 > 最新文献

Thalassemia Reports最新文献

英文 中文
Red cell cytogram in CELL-DYN® Sapphire: a ready-to-use function for recognizing thalassemia trait cell - dyn®蓝宝石中的红细胞图:用于识别地中海贫血特征的即用型功能
IF 0.3 Q4 HEMATOLOGY Pub Date : 2016-04-04 DOI: 10.4081/THAL.2016.5260
E. Urrechaga, O. Boveda, J. Hoffmann
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), produced by the CELL-DYN ® Sapphire analyzer (Abbott Diagnostics, Santa Clara, CA, USA) in the discrimination of iron deficiency anemia (IDA) and thalassemia trait. A total of 380 patients with microcytic anemia were studied: 220 with IDA, 101 β-thalassemia trait, 30 β-thalassemia trait with concomitant iron deficiency, 29 α-thalassemia trait. Three professionals reviewed the Mie maps, with no information regarding the disease of the patient. The observers made a presumptive diagnosis (genetic or acquired anemia) and the percentages of correct classifications were recorded. IDA showed broad shaped shift of the cytogram while carriers presented narrow clustering in the lower microcytic area: 100 % IDA were correctly classified and 96-82% of carriers were recognized. Visual inspection of the Mie map reveals different profiles in IDA and thalassemia trait; those patterns are in concordance with the numerical data Mie map helps in the evaluation of large amounts of data. 红细胞单细胞光学分析提供了关于细胞血红蛋白浓度及红细胞体积的信息。 我们评价了典型的细胞图血红蛋白浓度/体积分布(Mie Map)在缺铁性贫血(IDA)和地中海贫血特征的识别方面的可靠性,分布曲线由CELL-DYN® Sapphire分析仪(Abbott Diagnostics, Santa Clara, CA, USA)生成。 一共对380例小细胞性贫血进行了研究:220例患有IDA,101例β有地中海贫血特征,30例β有地中海贫血特征合并缺铁性,29 α例地中海贫血特征。 由三名专业人员在没有任何患者病情信息的情况下进行Mie map读图。 读图者作出初步诊断(遗传性或获得性贫血),记录正确分类的百分比。 IDA表现出细胞图较宽发散形状的偏移,而基因携带者在更低的小细胞区域呈现较窄的聚集:100%的IDA被正确分类,96-82%的基因携带者得到确认。 Mie map的目测检查揭示了IDA和地中海贫血特征方面不同的分布;这些模式与数值数据相一致。Mie map有助于大量数据的评估。
红细胞单细胞光学分析提供红细胞血红蛋白浓度和体积的信息。我们评估了CELL-DYN®蓝宝石分析仪(Abbott Diagnostics, Santa Clara, CA, USA)生产的典型细胞图血红蛋白浓度/体积(Mie Map)在缺铁性贫血(IDA)和地中海贫血特征鉴别中的可靠性。本研究共纳入380例小细胞贫血患者,其中IDA 220例,β-地中海贫血101例,β-地中海贫血伴缺铁30例,α-地中海贫血29例。三名专业人员审查了Mie地图,没有关于患者疾病的信息。观察人员作出推定诊断(遗传性或获得性贫血),并记录正确分类的百分比。IDA在细胞图上呈宽的形移,而携带者在下小细胞区呈窄的聚集,100%的IDA被正确分类,96-82%的携带者被识别。目视检查Mie图谱揭示了IDA和地中海贫血特征的不同概况;这些模式与数值数据一致,Mie地图有助于评估大量数据。红细胞单细胞光学分析提供了关于细胞血红蛋白浓度及红细胞体积的信息。 我们评价了典型的细胞图血红蛋白浓度/体积分布(米氏地图)在缺铁性贫血(IDA)和地中海贫血特征的识别方面的可靠性,分布曲线由CELL-DYN®蓝宝石分析仪(美国雅培诊断,圣克拉拉,CA)生成。一共对380例小细胞性贫血进行了研究:220例患有艾达,101例β有地中海贫血特征,30例β有地中海贫血特征合并缺铁性,α29例地中海贫血特征。Mie地图。读图者作出初步诊断(遗传性或获得性贫血),记录正确分类的百分比。 艾达表现出细胞图较宽发散形状的偏移,而基因携带者在更低的小细胞区域呈现较窄的聚集:100%的艾达被正确分类,96 - 82%的基因携带者得到确认。这张地图,就是“米图”。Mie地图。
{"title":"Red cell cytogram in CELL-DYN® Sapphire: a ready-to-use function for recognizing thalassemia trait","authors":"E. Urrechaga, O. Boveda, J. Hoffmann","doi":"10.4081/THAL.2016.5260","DOIUrl":"https://doi.org/10.4081/THAL.2016.5260","url":null,"abstract":"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), produced by the CELL-DYN ® Sapphire analyzer (Abbott Diagnostics, Santa Clara, CA, USA) in the discrimination of iron deficiency anemia (IDA) and thalassemia trait. A total of 380 patients with microcytic anemia were studied: 220 with IDA, 101 β-thalassemia trait, 30 β-thalassemia trait with concomitant iron deficiency, 29 α-thalassemia trait. Three professionals reviewed the Mie maps, with no information regarding the disease of the patient. The observers made a presumptive diagnosis (genetic or acquired anemia) and the percentages of correct classifications were recorded. IDA showed broad shaped shift of the cytogram while carriers presented narrow clustering in the lower microcytic area: 100 % IDA were correctly classified and 96-82% of carriers were recognized. Visual inspection of the Mie map reveals different profiles in IDA and thalassemia trait; those patterns are in concordance with the numerical data Mie map helps in the evaluation of large amounts of data. 红细胞单细胞光学分析提供了关于细胞血红蛋白浓度及红细胞体积的信息。 我们评价了典型的细胞图血红蛋白浓度/体积分布(Mie Map)在缺铁性贫血(IDA)和地中海贫血特征的识别方面的可靠性,分布曲线由CELL-DYN® Sapphire分析仪(Abbott Diagnostics, Santa Clara, CA, USA)生成。 一共对380例小细胞性贫血进行了研究:220例患有IDA,101例β有地中海贫血特征,30例β有地中海贫血特征合并缺铁性,29 α例地中海贫血特征。 由三名专业人员在没有任何患者病情信息的情况下进行Mie map读图。 读图者作出初步诊断(遗传性或获得性贫血),记录正确分类的百分比。 IDA表现出细胞图较宽发散形状的偏移,而基因携带者在更低的小细胞区域呈现较窄的聚集:100%的IDA被正确分类,96-82%的基因携带者得到确认。 Mie map的目测检查揭示了IDA和地中海贫血特征方面不同的分布;这些模式与数值数据相一致。Mie map有助于大量数据的评估。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"6 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2016-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2016.5260","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
The whys of patient centered care 为什么要以病人为中心
IF 0.3 Q4 HEMATOLOGY Pub Date : 2015-11-05 DOI: 10.4081/THAL.2015.5473
M. Dehshal
My late grandfather kept telling me tales about the influential status of Iranian practitioners (called Hakim) at old times in the lives of the old generations. The tales all purport to the high rank and privilege granted to the practitioners in past as the absolute authority of the community’s health who dictated what responsibilities people should take for their health to be ensured. The obsequiousness to the prescription of hakim seemed to be the only guarantee for patients’ health and no one but the hakim was entitled the right to talk about the treatment. Still such a physiciandominated procedure called medicalization1 is the dominant trend in the health management of the human societies. The question is however if this sort of management can be pursued effectively in the modern era. Max Weber considers all bureaucratic organizations tended towards the routine decision makings.2 Jurgen Habermas updated Weber’s theory in the field of juridical systems and made the new word of jurification by which many juridical organizations follow unconditionally the canon law and the predetermined legal trends and the precedence with the consequence of distancing ever before from the general concept of justice.3 Herman Melville the famous American author has depicted this gap between the practical law enforcement and justice in his well-known book of Billy Budd. The time Captain Vere despite his personal belief condemned Billy to death sentence just based on the letter of the mutiny act the gap between the law adherence and enforcement with that of justice came to light.4 The term medification in the health system is equivalent to jurification in the judicial systems.1 There are many different reasons for this phenomenon including the tendency of physicians to follow older practices or the pressure imposed by the health decision makers for lower health costs.1 Generally the societies show resistance against change and physicians are no exception. Most frequently the physicians pursue the routine old practice citing the evidence that they are more effective with no necessity for the change in the treatment protocols.5 I have had so many observations that the physicians for managing thalassemics have emphasized on the constant 8h-long infusion and refused to use the new oral administration. The engagement of the health decision makers in the disease management and formulation of the therapy protocols encloses care givers within the scope of the routine protocols. Under such circumstances, it is almost impossible to think of change based on the patients’ demand. Physicians’ orientation towards routine practices and protocols can be even communicated to patients. The stronger physicianpatient affinity cause of the long term treatment requirement and the transmission of the former’s inclination decrease the latter’s tendency towards any changes in the treatment protocols. This is much evident at the later decades of life of the patients with hereditary diseases
我已故的祖父一直给我讲伊朗修炼者(称为哈基姆)在老一代生活中的影响地位。这些故事都声称,在过去,医生被赋予了很高的地位和特权,他们是社区健康的绝对权威,决定了人们应该为确保自己的健康承担什么样的责任。对哈基姆处方的顺从似乎是病人健康的唯一保证,除了哈基姆,没有人有权谈论这种治疗。尽管如此,这种由医生主导的称为医疗化的程序仍是人类社会健康管理的主导趋势。然而,问题是,这种管理在现代能否得到有效推行。马克斯·韦伯认为所有的官僚组织都倾向于例行决策2 .尤尔根·哈贝马斯在司法制度领域更新了韦伯的理论,创造了“正当性”一词,使许多司法组织无条件地遵循教会法和预先确定的法律趋势和优先权,其结果是前所未有地远离了一般的正义概念美国著名作家赫尔曼·梅尔维尔在他著名的著作《比利·巴德》中描述了实际执法与正义之间的这种差距。当维尔船长不顾个人信仰,仅仅根据叛变法案的条文就判处比利死刑时,法律的遵守和执行与正义之间的差距就暴露出来了卫生制度中的调解一词等同于司法制度中的认定这一现象有许多不同的原因,包括医生倾向于遵循旧的做法或卫生决策者施加的压力,以降低卫生费用一般来说,社会表现出对变革的抵制,医生也不例外。大多数情况下,医生会继续沿用常规的老方法,理由是这些方法更有效,没有必要改变治疗方案我观察到很多地中海贫血的医生强调持续8小时的输注,拒绝使用新的口服给药。卫生决策者参与疾病管理和制定治疗方案,将护理人员纳入常规方案的范围。在这种情况下,几乎不可能考虑根据患者的需求进行改变。医生对常规做法和协议的倾向甚至可以传达给患者。较强的医患亲和力导致长期治疗需求和前者倾向的传递,降低了后者对治疗方案的任何改变的倾向。这一点在遗传性疾病患者的晚年尤为明显。哈贝马斯对日常行为高于真实目标的担忧主要出现在医疗系统中,以至于医疗团队毫无保留地将“病例”一词应用于转诊到医疗中心的患者。几天前,一位糖尿病患者发生了一件真实的事件,表现出了调解的现象。一名有二甲双胍使用记录的39岁女性向内分泌学家求助,内分泌学家为她开了胰岛素以继续治疗。由于她的日程安排很紧,而且不喜欢整天多次服药,她拒绝携带和使用胰岛素。然后,她要求医生给她开一种口服药物,但这位熟练的内分泌学家坚持认为这违反了医疗协议。经过多次协商,他同意给兰图斯开每天一次的胰岛素,但问题是保险公司不支付这笔费用。几年后,我在一次糖尿病患者的培训中偶然遇到了那位女士,她对每晚注射一次胰岛素、白天注射磺脲类药物感到非常高兴。她告诉我,她是从一位积极治疗糖尿病的全科医生那里知道这种方法的;餐后血糖和糖化血红蛋白水平均在参考范围内。这促使我尝试做一个简单的搜索,找出睡前胰岛素,白天磺脲类药物在2型糖尿病治疗中的应用那位女士并不是唯一对这种最近的方法表示满意的病人,在虚拟网络中搜索,发现了许多关于其疗效和病人依从性的报告经验。这一单一的例子可以令人信服地说明,应高度重视患者对治疗偏好的特殊需要,并避免护理人员强调医疗规程或受到保险公司财务条例的限制。 病人导向不仅仅局限于治疗,还延伸到医疗中心的结构设计和空间规划让我澄清一下我的观点。德黑兰北部有一家诊所,成年地中海贫血患者可以去那里就诊;他们终生从事地中海贫血及其治疗工作,对这里的所有细节都很清楚。许多在地中海贫血管理方面经验丰富的专家和医生认为,诊所缺乏必要的设施,无法提供适当的护理。一幢小屋苑已改作用途,用作诊所,但不设药房、加护病房/持续护理病房、化验室等。然而,该诊所的许多患者对此持赞扬态度。许多地中海贫血患者从伊朗各地的不同城市来到首都,并认为这家诊所是一个合适的治疗中心。经验丰富的医生很惊讶为什么会出现这种情况,为什么会有如此强烈的态度,但对我这个地中海贫血患者来说,这一点也不奇怪。几年前,当我13岁的时候,我住在伊朗北部的一个小城市,我每个月都会去医院输血。偶尔,医院里挤满了悲伤的人,他们期待着从停尸间释放他们死去的亲人。作为一名没有选择,只能沿着不同的走廊走到输血病房的病人,很难忍受这种沉重的气氛。一件新的事情使我的心情更糟,更不能忍受了。春天的一天,在医院急诊室输液时,突然有一位病危的老人住进了医院,他就躺在我旁边的病床上,医生们试图使他苏醒,但无济于事。他失去了生命。我不记得他被送到停尸间花了多长时间,但回想起我13岁时在一具尸体旁度过的时光,我仍然感到心痛。那段记忆一直困扰着我,对医院的恐惧促使我在高考时放弃了医学专业的学习。即使在我最糟糕的健康状况下,我也不愿意在医院里呆一个晚上。我想说的是,我坚定地相信,医院地中海贫血病房的布局和间隔应该考虑到地中海贫血患者的倾向。《2015年地中海贫血报告》;体积5:5473
{"title":"The whys of patient centered care","authors":"M. Dehshal","doi":"10.4081/THAL.2015.5473","DOIUrl":"https://doi.org/10.4081/THAL.2015.5473","url":null,"abstract":"My late grandfather kept telling me tales about the influential status of Iranian practitioners (called Hakim) at old times in the lives of the old generations. The tales all purport to the high rank and privilege granted to the practitioners in past as the absolute authority of the community’s health who dictated what responsibilities people should take for their health to be ensured. The obsequiousness to the prescription of hakim seemed to be the only guarantee for patients’ health and no one but the hakim was entitled the right to talk about the treatment. Still such a physiciandominated procedure called medicalization1 is the dominant trend in the health management of the human societies. The question is however if this sort of management can be pursued effectively in the modern era. Max Weber considers all bureaucratic organizations tended towards the routine decision makings.2 Jurgen Habermas updated Weber’s theory in the field of juridical systems and made the new word of jurification by which many juridical organizations follow unconditionally the canon law and the predetermined legal trends and the precedence with the consequence of distancing ever before from the general concept of justice.3 Herman Melville the famous American author has depicted this gap between the practical law enforcement and justice in his well-known book of Billy Budd. The time Captain Vere despite his personal belief condemned Billy to death sentence just based on the letter of the mutiny act the gap between the law adherence and enforcement with that of justice came to light.4 The term medification in the health system is equivalent to jurification in the judicial systems.1 There are many different reasons for this phenomenon including the tendency of physicians to follow older practices or the pressure imposed by the health decision makers for lower health costs.1 Generally the societies show resistance against change and physicians are no exception. Most frequently the physicians pursue the routine old practice citing the evidence that they are more effective with no necessity for the change in the treatment protocols.5 I have had so many observations that the physicians for managing thalassemics have emphasized on the constant 8h-long infusion and refused to use the new oral administration. The engagement of the health decision makers in the disease management and formulation of the therapy protocols encloses care givers within the scope of the routine protocols. Under such circumstances, it is almost impossible to think of change based on the patients’ demand. Physicians’ orientation towards routine practices and protocols can be even communicated to patients. The stronger physicianpatient affinity cause of the long term treatment requirement and the transmission of the former’s inclination decrease the latter’s tendency towards any changes in the treatment protocols. This is much evident at the later decades of life of the patients with hereditary diseases","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.5473","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Prevalence of hemolytic anemia and hemoglobinopathies among the pregnant women attending a tertiary hospital in central India 在印度中部一家三级医院就诊的孕妇中溶血性贫血和血红蛋白病的患病率
IF 0.3 Q4 HEMATOLOGY Pub Date : 2015-10-23 DOI: 10.4081/THAL.2015.4644
R. S. Balgir
Anemia in pregnancy is one of the causes of maternal morbidity and, maternal and fetal mortality in India. Hemoglobin transports oxygen to different parts of the body. Any defect in hemoglobin structure leads to its adverse functions. Screening of pregnant women for hemoglobinopahties helps in early intervention for reducing morbidity and mortality. Although the prevalence of hemoglobinopathies especially of the sickle cell disorders is high in Madhya Pradesh but any study on pregnant women is lacking. This study had set the objectives to find the prevalence of anemia and hemoglobin disorders in pregnant women, and to determine the health status through hematological indices profile in central India. Hospital based a cross-sectional study showed 12.26% prevalence of hemoglobinopathies among 416 pregnant women, the sickle cell trait being 7.45%, followed by β-thalassemia trait (2.89%), hemoglobin E trait (0.24%), and sickle cell disease (1.68%). About 88% of the pregnant women were found free of hemoglobinopathies. Of the 9.13% pregnant women included in the study were suffering from sickle cell disorders. However, the overall 47.11% anemia was observed in pregnant women, ranging in between 45% to 66% and seemed to show a reduction in anemia after nutritional supplementations and improvement in maternal health care at antenatal check up due to accessibility to medical health facilities. A comparison of hematological indices of pregnant women afflicted with and without sickle cell disorders have revealed much reduced hemoglobin level, red blood cells count, mean corpuscular volume, hematocrit, and mean corpuscular hemoglobin; and raised leucocytosis in sickle cell disorder cases than among the normal pregnant women. A more vigorous and realistic campaign of prophylactic regime of supplementations for these pregnant women and child health care is suggested. 妊娠期贫血是印度产妇母体发病率以及母婴死亡率的原因之一。 血红蛋白将氧输送到身体的不同部位。 血红蛋白结构的任何缺陷都导致其功能不良。 孕妇的血红蛋白病筛查有助于早期干预,降低发病率和死亡率。 虽然血红蛋白病特别是镰状细胞病的患病率在中央邦较高,但对孕妇的任何研究都很缺乏。 本研究将目标设为找出孕妇贫血和血红蛋白病患病率,并通过印度中部的血液指标情况来确定健康状况。 医院基于一项横断面研究显示了416名孕妇中12.26%的血红蛋白病患病率,镰状细胞特征为7.45%,接下来是β地中海贫血特征(2.89%)、血红蛋白E特征(0.24%)和镰状细胞病(1.68%)。 约88%的孕妇被发现未患血红蛋白病。 纳入研究的孕妇有9.13%患有镰状细胞病。 然而,在孕妇中观察到总体47.11%的贫血,范围从45%到66%之间,在营养补充以及由于医疗卫生设施可及性原因在产前检查时孕妇健康护理改善后,看来显示出贫血的减少。 对患有或未患镰状细胞病的孕妇血液学指数的比较揭示出,镰状细胞症病的病例与正常孕妇相比血红蛋白水平、红细胞计数、平均红细胞容积、血细胞比容和平均红细胞血红蛋白有很大降低,以及有白细胞的增多。 建议对于这些孕妇和儿童的卫生护理的预防性补充方案采取更积极并且更切实际的活动。
妊娠期贫血是印度孕产妇发病和孕产妇及胎儿死亡的原因之一。血红蛋白将氧气运送到身体的不同部位。血红蛋白结构的任何缺陷都会导致其不良功能。对孕妇进行血红蛋白病筛查有助于进行早期干预,降低发病率和死亡率。虽然血红蛋白病,特别是镰状细胞病的患病率在中央邦很高,但缺乏对孕妇的任何研究。这项研究的目标是发现孕妇贫血和血红蛋白紊乱的患病率,并通过血液学指标概况确定印度中部孕妇的健康状况。基于医院的横断面研究显示,416名孕妇中血红蛋白病的患病率为12.26%,镰状细胞特征为7.45%,其次是β-地中海贫血特征(2.89%)、血红蛋白E特征(0.24%)和镰状细胞病(1.68%)。约88%的孕妇未发现血红蛋白病。该研究中9.13%的孕妇患有镰状细胞疾病。然而,在孕妇中观察到的总体贫血率为47.11%,范围在45%至66%之间,并且由于医疗保健设施的可及性,在营养补充和产前检查中孕产妇保健的改善后,贫血率似乎有所减少。对患有和不患有镰状细胞病的孕妇的血液学指标进行比较,发现血红蛋白水平、红细胞计数、平均红细胞体积、红细胞压积和平均红细胞血红蛋白大大降低;镰状细胞病患者的白细胞增多率高于正常孕妇。建议对这些孕妇和儿童保健进行更有力和更现实的预防性补充运动。妊娠期贫血是印度产妇母体发病率以及母婴死亡率的原因之一。 血红蛋白将氧输送到身体的不同部位。 血红蛋白结构的任何缺陷都导致其功能不良。 孕妇的血红蛋白病筛查有助于早期干预,降低发病率和死亡率。 虽然血红蛋白病特别是镰状细胞病的患病率在中央邦较高,但对孕妇的任何研究都很缺乏。 本研究将目标设为找出孕妇贫血和血红蛋白病患病率,并通过印度中部的血液指标情况来确定健康状况。 医院基于一项横断面研究显示了416名孕妇中12.26%的血红蛋白病患病率,镰状细胞特征为7.45%,接下来是β地中海贫血特征(2.89%)、血红蛋白E特征(0.24%)和镰状细胞病(1.68%)。约88%的孕妇被发现未患血红蛋白病。 中国科学院生物医学工程学院然而,在孕妇中观察到总体47.11%的贫血,范围从45%到66%之间,在营养补充以及由于医疗卫生设施可及性原因在产前检查时孕妇健康护理改善后,看来显示出贫血的减少。对患有或未患镰状细胞病的孕妇血液学指数的比较揭示出,镰状细胞症病的病例与正常孕妇相比血红蛋白水平、红细胞计数、平均红细胞容积、血细胞比容和平均红细胞血红蛋白有很大降低,以及有白细胞的增多。 建议对于这些孕妇和儿童的卫生护理的预防性补充方案采取更积极并且更切实际的活动。
{"title":"Prevalence of hemolytic anemia and hemoglobinopathies among the pregnant women attending a tertiary hospital in central India","authors":"R. S. Balgir","doi":"10.4081/THAL.2015.4644","DOIUrl":"https://doi.org/10.4081/THAL.2015.4644","url":null,"abstract":"Anemia in pregnancy is one of the causes of maternal morbidity and, maternal and fetal mortality in India. Hemoglobin transports oxygen to different parts of the body. Any defect in hemoglobin structure leads to its adverse functions. Screening of pregnant women for hemoglobinopahties helps in early intervention for reducing morbidity and mortality. Although the prevalence of hemoglobinopathies especially of the sickle cell disorders is high in Madhya Pradesh but any study on pregnant women is lacking. This study had set the objectives to find the prevalence of anemia and hemoglobin disorders in pregnant women, and to determine the health status through hematological indices profile in central India. Hospital based a cross-sectional study showed 12.26% prevalence of hemoglobinopathies among 416 pregnant women, the sickle cell trait being 7.45%, followed by β-thalassemia trait (2.89%), hemoglobin E trait (0.24%), and sickle cell disease (1.68%). About 88% of the pregnant women were found free of hemoglobinopathies. Of the 9.13% pregnant women included in the study were suffering from sickle cell disorders. However, the overall 47.11% anemia was observed in pregnant women, ranging in between 45% to 66% and seemed to show a reduction in anemia after nutritional supplementations and improvement in maternal health care at antenatal check up due to accessibility to medical health facilities. A comparison of hematological indices of pregnant women afflicted with and without sickle cell disorders have revealed much reduced hemoglobin level, red blood cells count, mean corpuscular volume, hematocrit, and mean corpuscular hemoglobin; and raised leucocytosis in sickle cell disorder cases than among the normal pregnant women. A more vigorous and realistic campaign of prophylactic regime of supplementations for these pregnant women and child health care is suggested. 妊娠期贫血是印度产妇母体发病率以及母婴死亡率的原因之一。 血红蛋白将氧输送到身体的不同部位。 血红蛋白结构的任何缺陷都导致其功能不良。 孕妇的血红蛋白病筛查有助于早期干预,降低发病率和死亡率。 虽然血红蛋白病特别是镰状细胞病的患病率在中央邦较高,但对孕妇的任何研究都很缺乏。 本研究将目标设为找出孕妇贫血和血红蛋白病患病率,并通过印度中部的血液指标情况来确定健康状况。 医院基于一项横断面研究显示了416名孕妇中12.26%的血红蛋白病患病率,镰状细胞特征为7.45%,接下来是β地中海贫血特征(2.89%)、血红蛋白E特征(0.24%)和镰状细胞病(1.68%)。 约88%的孕妇被发现未患血红蛋白病。 纳入研究的孕妇有9.13%患有镰状细胞病。 然而,在孕妇中观察到总体47.11%的贫血,范围从45%到66%之间,在营养补充以及由于医疗卫生设施可及性原因在产前检查时孕妇健康护理改善后,看来显示出贫血的减少。 对患有或未患镰状细胞病的孕妇血液学指数的比较揭示出,镰状细胞症病的病例与正常孕妇相比血红蛋白水平、红细胞计数、平均红细胞容积、血细胞比容和平均红细胞血红蛋白有很大降低,以及有白细胞的增多。 建议对于这些孕妇和儿童的卫生护理的预防性补充方案采取更积极并且更切实际的活动。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4644","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease 阿曼镰状细胞病患者的单倍型、亚单倍型和地理分布
IF 0.3 Q4 HEMATOLOGY Pub Date : 2015-05-19 DOI: 10.4081/THAL.2015.4739
S. Hassan, M. A. Muslahi, M. A. Riyami, Abeer Al Balushi, E. Bakker, C. Harteveld, P. Giordano
Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different haplotypes with different clinical expression. Identifying the genotypes, haplotypes and sub-haplotypes of the β gene cluster in Oman needs to be studied in more details to establish a correlation between the genotype/haplotype and phenotype diversity observed in SCD patients for prognostic purposes, accurate diagnosis and thus planning for the best tailored treatment. We have investigated 125 HbS homozygotes from different parts of Oman and determined their haplotypes and sub-haplotypes and correlated this to the hematological and clinical expression. We have found 11 haplotype combinations differently distributed in the country, with the Asian/Asian HbS haplotype being the most predominant. Sub-haplotypes was only found among patients with CAR/OmanI haplotype. As expected, the correlation between haplotypes, sub-haplotypes and disease severity was mainly associated with HbF expression. Our study on haplotype/phenotype correlation has shown which major haplotypes occur in the different regions of Oman. Furthermore, neither the haplotype or sub-haplotype nor the HbF alone appeared to be fully associable with the variable clinical phenotypes. External factors do occur and are associated with the expression of the disease. 尽管镰状细胞突变病(SCD)患者拥有相同的基因类型,但患者的病患程度却大相径庭。血红蛋白(Hb)S突变有五种不同的单体型,各种类型在临床表现上也不相同。为了识别在阿曼地区β基因簇的基因型、单体型,亚单体型,需要研究更多以SCD患者预后为目的,关于其观察到的基因型、单体型,表型多样性之间联系的更多细节,以便作出准确的诊断,为各个患者量身制定治疗方案。我们研究了125个来自阿曼不同地区的HbS纯合体,并确认了它们的单体型和亚单体型血液学上的临床表现。我们已找到了该国家11个单体型组合的不同分布,其中以亚洲/亚洲HbS单体型为主要类型。亚单体型只在CAR/OMANI单体型患者中被发现。正如之前所料,单体型、亚单体型和病患程度之间的联系主要与HbF表现相关。我们关于单体型和亚单体型之间联系的研究显示出了阿曼地区最为主要的单体类型。此外,无论是单体型、亚单体型还是HbF,都被证明与该疾病不同的临床表现没有紧密的联系。外部因素是该疾病不同表现的致因。
尽管镰状细胞病(SCD)纯合突变的患者具有相同的基因型,但该疾病的严重程度可能非常不同。血红蛋白(Hb) S突变已在五种不同的单倍型中描述,具有不同的临床表达。确定阿曼β基因簇的基因型、单倍型和亚单倍型需要进行更详细的研究,以建立SCD患者中观察到的基因型/单倍型和表型多样性之间的相关性,从而实现预后目的,准确诊断,从而制定最佳治疗方案。我们调查了来自阿曼不同地区的125个HbS纯合子,确定了它们的单倍型和亚单倍型,并将其与血液学和临床表达相关联。我们发现11个单倍型组合在全国分布不同,以亚洲/亚洲HbS单倍型最占优势。亚单倍型仅在CAR/OmanI单倍型患者中发现。正如预期的那样,单倍型、亚单倍型与疾病严重程度的相关性主要与HbF的表达有关。我们对单倍型/表型相关性的研究显示了阿曼不同地区的主要单倍型。此外,单倍型或亚单倍型或HbF本身似乎都不能与可变的临床表型完全相关。外部因素确实存在,并且与疾病的表现有关。尽管镰状细胞突变病(SCD)患者拥有相同的基因类型,但患者的病患程度却大相径庭。(2)、(1)、(2)、(2)、(2)、(2)、(2)、(2)、(2)、(3)、(2)、(3)、(3)、(3)、(3)为了识别在阿曼地区β基因簇的基因型,单体型,亚单体型,需要研究更多以SCD患者预后为目的,关于其观察到的基因型,单体型,表型多样性之间联系的更多细节,以便作出准确的诊断,为各个患者量身制定治疗方案。我们研究了125个来自阿曼不同地区哈佛商学院的纯合体,并确认了它们的单体型和亚单体型血液学上的临床表现。我的意思是,我的意思是,我的意思是,我的意思是,我的意思是,我的意思是,我的意思是。汽车/阿曼汽车/阿曼汽车/阿曼汽车【中文译文】:中文译文:我们关于单体型和亚单体型之间联系的研究显示出了阿曼地区最为主要的单体类型。“”、“”、“”、“”、“”。外部因素是该疾病不同表现的致因。
{"title":"Haplotypes, sub-haplotypes and geographical distribution in Omani patients with sickle cell disease","authors":"S. Hassan, M. A. Muslahi, M. A. Riyami, Abeer Al Balushi, E. Bakker, C. Harteveld, P. Giordano","doi":"10.4081/THAL.2015.4739","DOIUrl":"https://doi.org/10.4081/THAL.2015.4739","url":null,"abstract":"Despite the fact that patients homozygous for the sickle cell disease (SCD) mutation have an identical genotype, the severity of the disease can be extremely variable. The hemoglobin (Hb) S mutation has been described on five different haplotypes with different clinical expression. Identifying the genotypes, haplotypes and sub-haplotypes of the β gene cluster in Oman needs to be studied in more details to establish a correlation between the genotype/haplotype and phenotype diversity observed in SCD patients for prognostic purposes, accurate diagnosis and thus planning for the best tailored treatment. We have investigated 125 HbS homozygotes from different parts of Oman and determined their haplotypes and sub-haplotypes and correlated this to the hematological and clinical expression. We have found 11 haplotype combinations differently distributed in the country, with the Asian/Asian HbS haplotype being the most predominant. Sub-haplotypes was only found among patients with CAR/OmanI haplotype. As expected, the correlation between haplotypes, sub-haplotypes and disease severity was mainly associated with HbF expression. Our study on haplotype/phenotype correlation has shown which major haplotypes occur in the different regions of Oman. Furthermore, neither the haplotype or sub-haplotype nor the HbF alone appeared to be fully associable with the variable clinical phenotypes. External factors do occur and are associated with the expression of the disease. 尽管镰状细胞突变病(SCD)患者拥有相同的基因类型,但患者的病患程度却大相径庭。血红蛋白(Hb)S突变有五种不同的单体型,各种类型在临床表现上也不相同。为了识别在阿曼地区β基因簇的基因型、单体型,亚单体型,需要研究更多以SCD患者预后为目的,关于其观察到的基因型、单体型,表型多样性之间联系的更多细节,以便作出准确的诊断,为各个患者量身制定治疗方案。我们研究了125个来自阿曼不同地区的HbS纯合体,并确认了它们的单体型和亚单体型血液学上的临床表现。我们已找到了该国家11个单体型组合的不同分布,其中以亚洲/亚洲HbS单体型为主要类型。亚单体型只在CAR/OMANI单体型患者中被发现。正如之前所料,单体型、亚单体型和病患程度之间的联系主要与HbF表现相关。我们关于单体型和亚单体型之间联系的研究显示出了阿曼地区最为主要的单体类型。此外,无论是单体型、亚单体型还是HbF,都被证明与该疾病不同的临床表现没有紧密的联系。外部因素是该疾病不同表现的致因。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"122 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4739","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Screening of β-thalassemia trait among pregnant women with NESTROFT NESTROFT孕妇β-地中海贫血特征的筛查
IF 0.3 Q4 HEMATOLOGY Pub Date : 2015-03-11 DOI: 10.4081/THAL.2015.4430
Hitesh Sarda, S. Niveditha, Nirmala Shivlingaiah
The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test. Optimal time to screen for BTT appears to be during pregnancy, as at risk couples can be offered prenatal diagnosis. We screened 55 pregnant women attending antenatal clinic in a medical college hospital at Bangalore, with NESTROFT. Twelve (21.89%) were NESTROFT positive with mean hemoglobin of 11.2 mg % and packed cell volume of 32.6%. Catering predominantly to Vokkaliga community in whom literature reports increased prevalence of BTT, addition of a cost effective test like NESTROFT in the antenatal panel, appears promising.   β地中海贫血症的流行已迫使医护人员制定更有效的屏幕筛查方法(BTT),其中红细胞渗透脆性肉眼一管法(NESTROFT)是成本较低的,亦最为有效的筛查方法。最佳的BTT筛查时间是怀孕期,可以为风险夫妇提供产前诊断。我们在班加罗尔医学院产前诊所对55名怀孕女性进行了红细胞渗透脆性肉眼一管法(NESTROFT)筛查。她们中的12位(21.89%)呈NESTROFT阳性,平均血红蛋白值11.2mg、细胞体积32.6%.在Vokkaliga地区发现了有关β地中海贫血症病例的增加,也许,成本低的、亦高效的红细胞渗透脆性肉眼一管法(NESTROFT)能为这一地区的产前筛查带来帮助。
The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test. Optimal time to screen for BTT appears to be during pregnancy, as at risk couples can be offered prenatal diagnosis. We screened 55 pregnant women attending antenatal clinic in a medical college hospital at Bangalore, with NESTROFT. Twelve (21.89%) were NESTROFT positive with mean hemoglobin of 11.2 mg % and packed cell volume of 32.6%. Catering predominantly to Vokkaliga community in whom literature reports increased prevalence of BTT, addition of a cost effective test like NESTROFT in the antenatal panel, appears promising.   β地中海贫血症的流行已迫使医护人员制定更有效的屏幕筛查方法(BTT),其中红细胞渗透脆性肉眼一管法(NESTROFT)是成本较低的,亦最为有效的筛查方法。最佳的BTT筛查时间是怀孕期,可以为风险夫妇提供产前诊断。我们在班加罗尔医学院产前诊所对55名怀孕女性进行了红细胞渗透脆性肉眼一管法(NESTROFT)筛查。她们中的12位(21.89%)呈NESTROFT阳性,平均血红蛋白值11.2mg、细胞体积32.6%.在Vokkaliga地区发现了有关β地中海贫血症病例的增加,也许,成本低的、亦高效的红细胞渗透脆性肉眼一管法(NESTROFT)能为这一地区的产前筛查带来帮助。
{"title":"Screening of β-thalassemia trait among pregnant women with NESTROFT","authors":"Hitesh Sarda, S. Niveditha, Nirmala Shivlingaiah","doi":"10.4081/THAL.2015.4430","DOIUrl":"https://doi.org/10.4081/THAL.2015.4430","url":null,"abstract":"The morbidity of β-thalassemia major has forced medical professionals to formulate screening tests to effectively screen β-thalassemia trait (BTT) of which naked eye single tube osmotic fragility test (NESTROFT) is the most cost effective test. Optimal time to screen for BTT appears to be during pregnancy, as at risk couples can be offered prenatal diagnosis. We screened 55 pregnant women attending antenatal clinic in a medical college hospital at Bangalore, with NESTROFT. Twelve (21.89%) were NESTROFT positive with mean hemoglobin of 11.2 mg % and packed cell volume of 32.6%. Catering predominantly to Vokkaliga community in whom literature reports increased prevalence of BTT, addition of a cost effective test like NESTROFT in the antenatal panel, appears promising.   β地中海贫血症的流行已迫使医护人员制定更有效的屏幕筛查方法(BTT),其中红细胞渗透脆性肉眼一管法(NESTROFT)是成本较低的,亦最为有效的筛查方法。最佳的BTT筛查时间是怀孕期,可以为风险夫妇提供产前诊断。我们在班加罗尔医学院产前诊所对55名怀孕女性进行了红细胞渗透脆性肉眼一管法(NESTROFT)筛查。她们中的12位(21.89%)呈NESTROFT阳性,平均血红蛋白值11.2mg、细胞体积32.6%.在Vokkaliga地区发现了有关β地中海贫血症病例的增加,也许,成本低的、亦高效的红细胞渗透脆性肉眼一管法(NESTROFT)能为这一地区的产前筛查带来帮助。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4430","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Hemoglobin SE disease in Hatay, in the southern part of Turkey 土耳其南部哈塔伊的血红蛋白SE病
IF 0.3 Q4 HEMATOLOGY Pub Date : 2015-02-25 DOI: 10.4081/THAL.2015.4597
C. Acıpayam, G. Oktay, G. Ilhan, M. A. Çürük
Double heterozygosity for hemoglobin (Hb) E and S, known as HbSE disease, is a rare, clinically benign condition involving mild hemolysis. Only 25 cases have been reported to date. The current literature generally associates HbSE with a benign clinical course, although vaso-occlusive complications have been reported. Although only single case reports were previously available, we have observed 20 cases of HbSE and wish to report them. We examined the records of patients presenting to our hemoglobinopathy center in 2001-2013. High performance liquid chromatography (HPLC) was used for hematological assessment of blood samples with ethylenediaminetetraacetic acid. Eight patients were male and 12 female. Mean hemoglobin electrophoresis values were Hb A1: 6.3%, Hb E 34.5%, HbS: 59.5% and Hb F: 1.9%. Three patients (15%) were symptomatic with vaso-occlusive crisis and one had cerebral stroke. These were siblings. The patient with cerebral stroke was using hydroxyurea. The incidence of HbSE disease is rising due to population admixtures and racial intermarriages. Increased numbers of cases of HbSE have been detected after premarital hemoglobinopathy screening in the Antakya and Cukurova regions of Turkey. The aim of this study was to report large numbers of patients with HbSE diagnosed through the routine HPLC method. The secondary aim was to emphasize that severe vaso-occlusive crisis such as infarction symptoms could be seen in HbSE.   E,S型双杂合性血红蛋白,被称为HbSE症,是一种罕见的,临床上呈良性的病症,通常伴有轻度溶血症状。迄今为止只有25个关于此病症的报告。当前通常把HbSE症是作为一种良性病患,尽管已有报告显示出其梗塞并发症的存在。虽然只有极少的相关报告,我们仍研究了20个HbSE病例,并希望能陈述我们的发现。 我们检查了2001-2013年患者在我们血红蛋白病中心提交的检测记录。高效液相色谱法(HPLC)及乙二胺四乙酸被采用以评估收集到的血液样本。患者为8名男性,12名女性。他们的平均血红蛋白电泳值分别为Hb A1: 6.3%、Hb E:34.5%、Hb S:59.5%,Hb F:1.9%。其中3位(15%)患者患有梗塞的并发症,一位患有脑卒中。这三名患者是兄弟姐妹。患有脑卒中的患者当时使用过羟基脲。HbSE症发病率的上升是由于人口及人种间的混血。在土耳其Antakya 和Cukurova 地区的婚前血红蛋白病的筛查中,发现了HbSE症病例的增加。该研究的目的是报告大量通过高效液相色谱法诊断的HbSE症病例。次要目的是强调例如梗塞的严重并发症会由HbSE症引发。
血红蛋白(Hb) E和S的双杂合性,被称为HbSE病,是一种罕见的临床良性疾病,涉及轻度溶血。迄今仅报告了25例。目前的文献普遍认为HbSE的临床病程为良性,尽管也有血管闭塞并发症的报道。虽然以前只有单一病例报告,但我们已经观察到20例HbSE,并希望报告它们。我们检查了2001-2013年到我们血红蛋白病中心就诊的患者记录。采用高效液相色谱法(HPLC)对血液样品进行血液学评价。男性8例,女性12例。平均血红蛋白电泳值Hb A1: 6.3%, Hb E: 34.5%, Hb b: 59.5%, Hb F: 1.9%。3例(15%)有血管闭塞危象症状,1例有脑卒中。他们是兄弟姐妹。脑卒中患者使用羟基脲治疗。由于人口混合和种族通婚,HbSE的发病率正在上升。在土耳其安塔基亚和库库罗瓦地区进行婚前血红蛋白病筛查后发现的HbSE病例数量有所增加。本研究的目的是报道通过常规HPLC方法诊断的大量HbSE患者。次要目的是强调在HbSE中可以看到严重的血管闭塞危象,如梗死症状。E S型双杂合性血红蛋白,被称为HbSE症,是一种罕见的,临床上呈良性的病症,通常伴有轻度溶血症状。迄今为止只有25个关于此病症的报告。《金融时报》:这是一个很好的例子。“”“”“”“”“”“”“”我们检查了2001-2013年患者在我们血红蛋白病中心提交的检测记录。高效液相色谱法(高效液相色谱)及乙二胺四乙酸被采用以评估收集到的血液样本。患者为8名男性,12名女性。他们的平均血红蛋白电泳值分别为Hb A1: 6.3%,乙肝E: 34.5%, Hb S: 59.5%, Hb F: 1.9%。其中3位(15%)患者患有梗塞的并发症,一位患有脑卒中。这三名患者是兄弟姐妹。患有脑卒中的患者当时使用过羟基脲。这是一个很好的例子。在土耳其安塔基亚和Cukurova地区的婚前血红蛋白病的筛查中,发现了HbSE症病例的增加。电子邮件:https://www.hkhk.cn/cn/或http://www.hkhk.cn/cn/这句话的意思是:“我的意思是,我的意思是。”
{"title":"Hemoglobin SE disease in Hatay, in the southern part of Turkey","authors":"C. Acıpayam, G. Oktay, G. Ilhan, M. A. Çürük","doi":"10.4081/THAL.2015.4597","DOIUrl":"https://doi.org/10.4081/THAL.2015.4597","url":null,"abstract":"Double heterozygosity for hemoglobin (Hb) E and S, known as HbSE disease, is a rare, clinically benign condition involving mild hemolysis. Only 25 cases have been reported to date. The current literature generally associates HbSE with a benign clinical course, although vaso-occlusive complications have been reported. Although only single case reports were previously available, we have observed 20 cases of HbSE and wish to report them. We examined the records of patients presenting to our hemoglobinopathy center in 2001-2013. High performance liquid chromatography (HPLC) was used for hematological assessment of blood samples with ethylenediaminetetraacetic acid. Eight patients were male and 12 female. Mean hemoglobin electrophoresis values were Hb A1: 6.3%, Hb E 34.5%, HbS: 59.5% and Hb F: 1.9%. Three patients (15%) were symptomatic with vaso-occlusive crisis and one had cerebral stroke. These were siblings. The patient with cerebral stroke was using hydroxyurea. The incidence of HbSE disease is rising due to population admixtures and racial intermarriages. Increased numbers of cases of HbSE have been detected after premarital hemoglobinopathy screening in the Antakya and Cukurova regions of Turkey. The aim of this study was to report large numbers of patients with HbSE diagnosed through the routine HPLC method. The secondary aim was to emphasize that severe vaso-occlusive crisis such as infarction symptoms could be seen in HbSE.   E,S型双杂合性血红蛋白,被称为HbSE症,是一种罕见的,临床上呈良性的病症,通常伴有轻度溶血症状。迄今为止只有25个关于此病症的报告。当前通常把HbSE症是作为一种良性病患,尽管已有报告显示出其梗塞并发症的存在。虽然只有极少的相关报告,我们仍研究了20个HbSE病例,并希望能陈述我们的发现。 我们检查了2001-2013年患者在我们血红蛋白病中心提交的检测记录。高效液相色谱法(HPLC)及乙二胺四乙酸被采用以评估收集到的血液样本。患者为8名男性,12名女性。他们的平均血红蛋白电泳值分别为Hb A1: 6.3%、Hb E:34.5%、Hb S:59.5%,Hb F:1.9%。其中3位(15%)患者患有梗塞的并发症,一位患有脑卒中。这三名患者是兄弟姐妹。患有脑卒中的患者当时使用过羟基脲。HbSE症发病率的上升是由于人口及人种间的混血。在土耳其Antakya 和Cukurova 地区的婚前血红蛋白病的筛查中,发现了HbSE症病例的增加。该研究的目的是报告大量通过高效液相色谱法诊断的HbSE症病例。次要目的是强调例如梗塞的严重并发症会由HbSE症引发。","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"5 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2015-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2015.4597","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Economic Recession and Health 经济衰退与健康
IF 0.3 Q4 HEMATOLOGY Pub Date : 2014-12-04 DOI: 10.4081/THAL.2014.4867
E. Theocharous
The economic crisis, which struck in Europe since 2008, has raised concerns about the health of the less privileged, vulnerable and poor people of the continent - the ordinary people of Europe. There is currently sufficient evidence for the negative and, in certain countries, devastating effects of austerity policies on the financing of health and other services of general interest, essential to promote the proper functioning of our economies and the cohesion of our societies. This evidence proves that health and social services are seriously impaired.
自2008年以来袭击欧洲的经济危机,引起了人们对欧洲大陆上特权较低、弱势和贫困人群——即欧洲普通民众——健康状况的担忧。目前有充分的证据表明,紧缩政策对保健和其他普遍关心的服务的筹资产生了负面影响,在某些国家产生了破坏性影响,这些服务对促进我们经济的正常运转和我们社会的凝聚力至关重要。这一证据证明,保健和社会服务受到严重损害。
{"title":"Economic Recession and Health","authors":"E. Theocharous","doi":"10.4081/THAL.2014.4867","DOIUrl":"https://doi.org/10.4081/THAL.2014.4867","url":null,"abstract":"The economic crisis, which struck in Europe since 2008, has raised concerns about the health of the less privileged, vulnerable and poor people of the continent - the ordinary people of Europe. There is currently sufficient evidence for the negative and, in certain countries, devastating effects of austerity policies on the financing of health and other services of general interest, essential to promote the proper functioning of our economies and the cohesion of our societies. This evidence proves that health and social services are seriously impaired.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2014.4867","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70309569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Quality of Life of Patients with Haemoglobinopathies in Periods of Economic Austerity 经济紧缩时期血红蛋白病患者的生活质量
IF 0.3 Q4 HEMATOLOGY Pub Date : 2014-12-04 DOI: 10.4081/thal.2014.4881
M. Tsironi
The concept of quality of life (QoL) encompasses a broad spectrum of meaning that is variously influenced by individual, natural and psychological conditions [...]
生活质量(QoL)的概念包含了广泛的含义,受到个人、自然和心理条件的不同影响[…]
{"title":"Quality of Life of Patients with Haemoglobinopathies in Periods of Economic Austerity","authors":"M. Tsironi","doi":"10.4081/thal.2014.4881","DOIUrl":"https://doi.org/10.4081/thal.2014.4881","url":null,"abstract":"The concept of quality of life (QoL) encompasses a broad spectrum of meaning that is variously influenced by individual, natural and psychological conditions [...]","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2014.4881","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ENERCA: e-Learning Platform ENERCA:电子学习平台
IF 0.3 Q4 HEMATOLOGY Pub Date : 2014-12-04 DOI: 10.4081/thal.2014.4880
P. Aguilar-Martinez
ENERCA (the European Network for Rare and Congenital Anemias) is a European Commission funded project since 2002 [...]
ENERCA(欧洲罕见和先天性贫血网络)是欧盟委员会自2002年以来资助的项目[…]
{"title":"ENERCA: e-Learning Platform","authors":"P. Aguilar-Martinez","doi":"10.4081/thal.2014.4880","DOIUrl":"https://doi.org/10.4081/thal.2014.4880","url":null,"abstract":"ENERCA (the European Network for Rare and Congenital Anemias) is a European Commission funded project since 2002 [...]","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2014.4880","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sickle Cell Disease Complications 镰状细胞病并发症
IF 0.3 Q4 HEMATOLOGY Pub Date : 2014-12-04 DOI: 10.4081/THAL.2014.4873
E. Voskaridou
Sickle cell disease (SCD) is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT) in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb) (a2β2). This change results in replacement of the wild type glutamic acid residue by a valine residue in β-globin chain and the formation of the sickle Hb (HbS) in homozygotes for this mutation. Heterozygotes live a normal life. In SCD patients, sickle erythrocytes are rigid with decreased deformability and reduced life span resulting in hemolysis, vaso-occlusive disease, vasculopathy and subsequent inflammation and end organ damage. Sickle cell disease affects millions of people worldwide. Today, with proper health care, many SCD patients have a good quality of life (QoL) and are in fairly good health most of the time. These people can live up to their forties or fifties, or longer. Despite the ‘common’ underlying genetic basis and a similar pathophysiology, patients with SCD present a highly variable clinical phenotype due to Single Nucleotide Polymorphisms (SNPs) variability throughout the genome. Patients with SCD are at high risk for developing multisystem acute and chronic complications associated with significant morbidity and mortality.
镰状细胞病(SCD)是一种遗传性的终身疾病。镰状突变包括编码血红蛋白(Hb) β-珠蛋白多肽(a2β2)的β-珠蛋白基因1外显子第6个密码子的单核苷酸变化(GAT->GTT)。这种变化导致野生型谷氨酸残基被β-珠蛋白链上的缬氨酸残基取代,并在该突变的纯合子中形成镰刀状Hb (HbS)。杂合子过正常的生活。在SCD患者中,镰状红细胞是刚性的,可变形性降低,寿命缩短,导致溶血、血管闭塞性疾病、血管病变以及随后的炎症和终末器官损伤。镰状细胞病影响着全世界数百万人。今天,在适当的医疗保健下,许多SCD患者的生活质量(QoL)都很好,大部分时间都很健康。这些人可以活到四五十岁,甚至更久。尽管SCD具有“共同”的潜在遗传基础和相似的病理生理,但由于整个基因组的单核苷酸多态性(snp)变异性,SCD患者表现出高度可变的临床表型。SCD患者发生多系统急性和慢性并发症的风险很高,与显著的发病率和死亡率相关。
{"title":"Sickle Cell Disease Complications","authors":"E. Voskaridou","doi":"10.4081/THAL.2014.4873","DOIUrl":"https://doi.org/10.4081/THAL.2014.4873","url":null,"abstract":"Sickle cell disease (SCD) is an inherited, lifelong condition. The sickle mutation consists a single nucleotide change (GAT->GTT) in the sixth codon of exon 1 of the β-globin gene coding for the β-globin polypeptide of hemoglobin (Hb) (a2β2). This change results in replacement of the wild type glutamic acid residue by a valine residue in β-globin chain and the formation of the sickle Hb (HbS) in homozygotes for this mutation. Heterozygotes live a normal life. In SCD patients, sickle erythrocytes are rigid with decreased deformability and reduced life span resulting in hemolysis, vaso-occlusive disease, vasculopathy and subsequent inflammation and end organ damage. Sickle cell disease affects millions of people worldwide. Today, with proper health care, many SCD patients have a good quality of life (QoL) and are in fairly good health most of the time. These people can live up to their forties or fifties, or longer. Despite the ‘common’ underlying genetic basis and a similar pathophysiology, patients with SCD present a highly variable clinical phenotype due to Single Nucleotide Polymorphisms (SNPs) variability throughout the genome. Patients with SCD are at high risk for developing multisystem acute and chronic complications associated with significant morbidity and mortality.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2014-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/THAL.2014.4873","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70309844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
期刊
Thalassemia Reports
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1