关键词： CATALASE   IRON deficiency anemia   BETA-Thalassemia   HYPOCHROMIC anemia   OXIDATIVE stress   ELECTROPHORESIS   POLYMERASE chain reaction  

摘要： Most common microcytic hypochromic anemias are iron deficiency anemia (IDA) and β-thalassemia trait (BTT), in which oxidative stress (OxS) has an essential role. Catalase causes detoxification of H₂O₂ in cells, and it is an indispensable antioxidant enzyme. The study was designed to measure erythrocyte catalase activity (ECAT) in patients with IDA (10) or BTT (21), to relate it with thalassemia mutation type (β⁰ or β⁺) and to compare it with normal subjects (67). Ninety-eight individuals were analyzed since September 2013 to June 2014 in Tucumán, Argentina. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA₂, catalase, and iron status were performed. β-thalassemic mutations were determined by real-time PCR. Normal range for ECAT was 70,0-130,0 MU/L. ECAT was increased in 14% (3/21) of BTT subjects and decreased in 40% (4/10) of those with IDA. No significant difference (p=0,245) was shown between normal and BTT groups, while between IDA and normal groups the difference was proved to be significant (p=0,000). In β⁰ and β⁺ groups, no significant difference (p=0,359) was observed. An altered ECAT was detected in IDA and BTT. These results will help to clarify how the catalase activity works in these anemia types. © 2015 Sandra Stella Lazarte et al.

关键词： Hematopoietic stem cell transplantation   Hepatic iron overload   Liver fibrosis   Perls’ prussian blue staining  

摘要： Currently, hematopoietic stem cell transplantation (HSCT) is the only curative option for patients with beta-thalassemia major, but liver iron overload in these patients will not decrease and hepatic fibrosis may still progress despite successful HSCT. Liver biopsy samples were taken from 14 patients (Out of 25 patients) who underwent HSCT. All patients met three criteria: negative HCV antibody, liver fibrosis in samples before HSCT and lack of regular treatment for iron overload after HSCT (Because patients did not consent to phlebotomy or they had not regular follow-up). We evaluated liver fibrosis and liver iron overload by a semi quantitative method, Perls’ Prussian blue staining, before and after HSCT. HSCT was successful in all the patients. Liver iron overload did not change after transplant (P=0.61), but hepatic fibrosis progressed after transplant (P=0.01). In patients with beta thalassemia major who previously had some degree of liver fibrosis, HSCT alone cannot reduce liver iron overload and liver fibrosis will increase. We recommend that regardless of the amount of iron overload in patients with beta thalassemia major that have shown some degree of fibrosis in their liver biopsy before transplantation, appropriate steps should be taken to reduce iron overload as soon as possible after successful transplantation. © 2015, Tehran University of Medical Sciences (TUMS). All rights reserved.

关键词： Leptin   Major beta thalassemia   Troponin  

摘要： Background Polypeptide hormone Leptin suppresses inflammation in the heart muscle and protects heart from diseases. The purpose of this study is to evaluate the relationship between leptin and troponin serum levels with cardiac involvement in patients with major beta thalassemia. Materials and Methods In this cross-sectional study, 70 children with major thalassemia were selected. Two ml blood was taken as sample from all children and after separating serum;the samples were maintained in -20 degrees C temperature. Then, regarding cold chain conditions, the sample were sent to the Biochemistry Lab. Afterwards, leptin and troponin serum levels with the relevant kits and BMI were measured in all children, and information about age and gender was recorded. Collected data were analyzed with SPSS. Results The mean of leptin in girls and boys were 2.47 +/- 3.13 and 0.96 +/- 1.08 respectively which showed a significant difference (t = 2.74, p = 0.009). A significant correlation was also observed between BMI and leptin (r = 0.374, P = 0.002). Another significant association was found between leptin and age (r = 0.248, P = 0.041). However, a significant inverse correlation between serum ferritin and age (r = -0.607, P = 0.0001) was discovered. No correlation was found between leptin, troponin, and ferritin. Conclusion Since Leptin increases with the advent of cardiac involvement and independent from troponin T, it can be a predictive marker of cardiac involvement in patients with major beta thalassemia.

关键词： Oxidative stress  

摘要： Studies on the antioxidant treatment for thalassemia have reported variable outcomes. However, treatment of thalassemia with a combination of hydrophobic and hydrophilic antioxidants and an iron chelator has not been studied. This study investigated the effects of antioxidant cocktails for the treatment of beta-thalassemia/hemoglobin E (HbE), which is the most common form of beta-thalassemia in Southeast Asia. Sixty patients were divided into two groups receiving N-acetylcysteine, deferiprone, and either curcuminoids (CUR) or vitamin E (Vit-E), and their hematological parameters, iron load, oxidative stress, and blood coagulation potential were evaluated. Patients were classified as responders if they showed the improvements of the markers of iron load and oxidative stress, otherwise as nonresponders. During treatment, the responders in both groups had significantly decreased iron load, oxidative stress, and coagulation potential and significantly increased antioxidant capacity and hemoglobin concentration. The significantly maximum increase (P < 0.01) in hemoglobin concentration was 11% at month 4 in CUR group responders and 10% at month 10 in Vit-E group responders. In conclusion, the two antioxidant cocktails can improve anemia, iron overload, oxidative stress, and hypercoagulable state in beta-thalassemia/HbE.

关键词： 缺铁性贫血   地中海贫血   血常规   鉴别研究  

摘要： 目的:探讨研究血常规检测在鉴别缺铁性贫血和地中海贫血的临床应用。方法:随机选择2013年4月-2015年4月来我院进行血常规检测的缺铁性贫血患者、地中海贫血患者和正常体检人员的临床病例资料,依次分为a、B、c三组,各60例,对血常规检测的相关指标进行分析。结果:a、B两组患者的红细胞计数(r Bc)、血红蛋白含量(HB)、平均红细胞体积(Mc V)、红细胞分布宽度(rd W)四项指标与c组相比,差异均显著(P<0.05),具有统计学意义;a组与B组之间的r Bc、HB、rd W差异也具有统计学意义(P<0.05)。结论:血常规检测结果能够有效鉴别出缺铁性贫血、地中海贫血和正常人群,值得临床推广应用。

关键词： 地中海贫血   基因型   基因突变频率   地域分布   产前诊断  

摘要： 目的:分析福建地区地中海贫血基因突变类型和频率,与我国其他地贫高发区主要基因突变类型特点进行比较,并对产前基因诊断结果进行分析,为福建省指导临床遗传咨询及制定有效的人群预防计划提供参考。方法:2008年7月至2014年6月来自全省各地的14817例就诊者,采用血常规和血红蛋白分析对血样进行地中海贫血筛查,采用PCR和反向点杂交(RDB)方法检测地中海贫血基因常见位点突变或缺失类型,对罕见基因型进行进一步测序,计算基因突变频率,所得结果和广东、广西、海南、云南、贵州和重庆6个省区分布特点进行比较。收集行地中海贫血产前诊断的福建籍同型地贫基因携带者夫妇的相关信息,对结果进行回顾性分析。调查结果采用SPSS17.0统计软件进行分析。结果:1.检出α-地中海贫血2747例,占18.54%,共发现8种α-地贫基因突变类型,基因频率按从高到低顺序分别是--SEA、-α3.7、-α4.2、αWSα、αCSα、αWSα、--Thai和-HKαα,缺失型地贫基因分布频率与广东、广西、海南、云南相似。2.对119例中间型α地中海贫血(HbH病)患者基因型和血液学表型结合进行分析,结果显示非缺失型组(--SEA/-αCSα、--SEA/-αQSα和--SEA/-αWSα)和缺失型组(--SEA/-α3.7和--SEA/-α4.2)血红蛋白(Hb)含量无明显差异,而红细胞平均体积(MCV)和平均血红蛋白(MCH)前者明显高于后者;剔除--SEA/-αWSα病例后两组再行比较,非缺失型组Hb含量显著低于缺失型组,但两组的MCV和MCH差异程度并未改变。3.检出β-地贫1842例,占12.43%,共发现16种β-地贫基因突变类型,基因频率按从高到低顺序分别是IVS-2-654(C→T)、CD41-42(-TCTT)、CD17(A→T)、-28(A→G)、CD27-28(+C)、CD26(G→A)、CD71-72(+A)、CD43(G→T)、-29(A→G)、起始密码子ATG→AGG、IVS-1-1(G→T)、IVS-1-5(G→T)、codon 36(-C)、codon30(A→G)、+22(G→A)、codons54-58(-TTATGGGCAACCC),与广东、海南基因变异存在一定相似性,和广西、云南、贵州、重庆基因变异差异较大。4.检出α合并β地中海贫血89例,占0.60%,提示复合型地中海贫血在福建并不常见。5.在247例进行产前诊断的孕妇中,7例在孕早期行绒毛活检,186例行羊膜腔穿刺术,54例行经皮脐静脉穿刺术。检出HbH病7例,巴氏水肿胎45例,重型及中间型β-地中海贫血23例。结论:1.本研究一定程度反映出福建地中海贫血发生率高和基因突变谱复杂的特点,与广东、海南等地基因变异存在一定相似性。2.福建α-地贫基因频率高于β-地贫,并发现世界首报和国内首报基因型codon36(-C)、codon 30(A→G)、+22(G→A)以及罕见基因型--Thai、Hkαα等。通过基因型和血液学表型结合进行分析,从临床方面对本地区地贫资料进行了补充和完善,为福建婚育和遗传指导提供重要的依据。3.产前诊断是避免重型及中间型地中海贫血患儿出生的有效措施,无创产前诊断是未来研究和干预地中海贫血的一大趋势。

关键词： 血液检验   贫血   鉴别诊断   临床应用价值  

摘要： 目的分析血常规对缺铁性与地中海贫血的诊断价值。方法分别选取我院诊治地中海性贫血28例作为地中海贫血组和缺铁性贫血28例作为缺铁性贫血组,同时选取健康体检者28例作为健康组,对三组研究对象进行血常规检测,观察三组患者RDW(红细胞分布宽度)、RBC(红细胞)、MCH(平均红细胞血红蛋白含量)、Hb(血红蛋白)以及MCV/RBC比值,并进行分析比较。结果地中海贫血组中的MCV/RBC、RBC两项指标均高于缺铁性贫血组及健康组,而缺铁性贫血组的Hb、RBC两项指标均低于地中海贫血组和健康组,但RDW则高于地中海贫血组和健康组,组间比较差异性显著(P<0.05),具有统计学意义。结论血常规对缺铁性与地中海贫血的诊断价值较高,可有效诊断不同类型贫血,为其临床治疗提供相应的依据。

关键词： 血液检查   贫血诊断   鉴别诊断   缺铁性贫血   地中海贫血  

摘要： 目的研究血液检验在贫血诊断与鉴别诊断中的价值。方法选取我院2012年1月~2014年10月诊治的贫血性患者110例，其中包括缺铁性贫血患者55例，将其作为观察组，地中海贫血患者55例，将其作为对照组，对两组患者的血细胞水平进行检测。结果在平均红细胞血红蛋白量及体积方面，两组患者差异不明显，无统计学意义(<0.05)：在平均血红蛋白浓度与红细胞分布宽度方面，两组患者差异较大，具有统计学意义(<0.05)。结论就贫血诊断与鉴别诊断来讲，将平均血红蛋白浓度与红细胞分布宽度作为诊断依据可以提高诊断准确度，值得临床推广使用。

关键词： 黎族   海南医学院   选择作用   细胞库   分子流行病学   地中海贫血   人类的起源   人类遗传资源   酶缺乏症   携带率   永生   法医学  

摘要： 黎族分布于海南省,人口约有120万。近25年来,海南医学院科研人员对黎族人群开展了以下研究:(1)地中海贫血的分子流行病学研究显示,黎族人群α-和β-地中海贫血的疾病基因携带率分别为50%和11.2%,且基因突变类型集中。(2)葡萄糖-6-磷酸脱氢酶缺乏症的分子缺陷的研究,发现了黎族人群该突变起源和进化及其与疟疾选择作用关系的分子依据。(3)建立黎族永生细胞库,并载入"中国不同民族永生细胞库",由"中国不同民族基因组保存中心"北方组保存,是我国人类遗传资源的重要组成部分。(4)Y染色体20个SNP和STR位点的分析,为中华民族和现代人类的起源研究提供了有价值的分子遗传学及法医学方面的证据,对人类遗传研究做出了重大贡献。

关键词： Anemia   Alpha thalassemia   Hb Adana   Hb Icaria   Hb Koya Dora   Mutation   Thalassemia  

摘要： Objective: Alpha thalassemia syndromes are caused by mutations on one or more of the four a-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause alpha(+)-thalassemia, some cause (-20.5, MED, THAI, FIL) alpha(0)-thalassemia. The aim of this study was to determine alpha thalassemia mutations in patients with unsolved hypochromic microcytic anemia and to evaluate types of mutations. Material and Methods: Two hundred six patients with hypochromic microcytic anemia were evaluated for alpha thalassemia. A venous blood sample of 2 mL was drawn from each patient for DNA isolation. The samples were investigated for alpha-thalassemia mutations by using the Vienna Lab alpha-Globlin StripAssay TM commercial kit. Results: Fourteen different mutations were determined in 95 (46.1%) patients. The most common mutation was the 3.7 single gene deletion and was found in 37 patients (n=37/95, 39%). Others common mutations were the 20.5 kb double gene deletion (n=20 patients, 21%), MED double gene deletion (n=17 patients, 17.9%), alpha 2 IVS1 (n=10 patients, 10.5%), alpha 2 cd142 Hb Koya Dora (n=6 patients, 6.3%), alpha 2 polyAl (Saudi type) (n=6 patients, 6.3%), 4.2 single gene deletion (n=4 patients, 4.2%), alpha l cd14 (n=2 patients, 2.1%), and-FIL mutation (n=2 patients 2.1%), respectively. Hb Adana, Hb Icaria, alpha 2 init cd and alpha 2 polyA2 (Turkish type) were found in 1% of the patients (n=1). Seven patients (7.4%) had alpha-thalassemia triplication. In our study, three mutations (Hb Icaria, alpha l cd14, alpha 2 ***) were determined firstly in Turkey. Seven mutations (-SEA,-THAI, Hb Constant Spring, alpha 2 cd19, alpha 2 cd59, alpha 2 cd125, Hb Pakse) were not determined in this study. Conclusion: Alpha thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemia especially in cases without iron deficiency and (beta-thalassemia carrier state. Genetic testing should be pe