关键词： Premarital screening   Kadirli   thalassemia trait   sickle cell anemia  

摘要： Objective: Hemoglobinopathy is one of the most widespread inherited disorders in Turkey and preventable with premarital screening programs. The aim of this study was determining the prevalence of hemoglobinopathies in Kadirli and discussing the necessity of premarital screening in this prevalent region by evaluating the results of premarital screening that is compulsory for all couples before marriage. Methods: This study was retrospectively conducted between January and November 2013 in Kadirli State Hospital. The results of all couples who applied for premarital screening (n=1994) were included the study. Additionally, screening results of 139 patients, who were admitted to the hospital without premarital screening, were also included in the study. Totally, 2133 screenings were included in this study. All samples were measured by high-performance liquid chromatography (HPLC) to determine haemoglobinopathies. Results: The number of beta-thalassemia trait was 98 (%4,91) in 1994 premarital screening. Hemoglobin D was the most common abnormal hemoglobin by 5 trait (%0.46) and 1 homozygote (%0.09). Hemoglobin S-Trait was also detected in 2 patient, as well as one HbE trait. The frequency of beta-thalassemia trait was 10 (%7.19) in 139 patients who were admitted to the hospital without premarital screening. None of those had variant hemoglobin type. Conclusion: According to the results of premarital screening, Kadirli beta-thalassemia trait was observed to be over the average of Turkey, while it was below the average of Cukurova and the Mediterranean region where Kadirli is located in. The results showed that premarital hemoglobinopathy screening should be kept being applied for all partners planning to get married in Kadirli. Additionally, all these people with variant Hb traits should be evaluated by further molecular genetic analysis in terms of its diversity of hemoglobinopathies.

关键词： thalassemia   arrhythmias   iron overload   earthquake  

摘要： On May 2012 the city of Ferrara and the surrounding region were hit by several earthquakes. We had the chance to observe the behavior of one thalassemic heart during the shocks, because of a 24-h electrocardiogram recording had been put in place a few hours before the shocks.

关键词： 产前生化筛查检验   地中海贫血   临床价值  

摘要： 目的:探讨产前生化筛查检验对地中海贫血的临床价值。方法:选取我院近两年来接收的2200名行产前筛查并进行分娩的孕妇作为本次的研究对象,并对其进行随访调查及部分进行血清学分析。结果:本组2200名孕妇中共检出地中海贫血孕妇22名,占1%;且研究结果表明地中海贫血孕妇的PAPP-A水平、AFP浓度均明显下降,而Freeβ-HCG水平则明显上升;且地中海贫血孕妇的MCV、MCH、RDW值与正常孕妇比较均有明显统计学意义(p>0.05)。结论:产前生化筛查检验在发现地中海贫血情况、加强干预、提高优生率方面有着重要的作用,应在更大范围推广应用。

关键词： 地中海贫血   胎儿   产前超声   诊断  

摘要： 目的：观察地中海贫血高危胎儿的二维超声表现,探讨超声在地中海贫血高危胎儿产前诊断中的应用价值。方法选取2009年6月至2013年6月在广西壮族自治区民族医院行胎儿产前超声检查有异常表现,且地中海贫血基因检查诊断为地中海贫血的孕20~28周单胎儿82例为地中海贫血组,选择同时期行孕期常规产前超声检查及地中海贫血基因检查正常的孕20~28周单胎儿86例为正常胎儿组。记录两组胎儿超声检查的表现,如胎儿心脏横径、胸腔横径、心胸比值、脐动脉内径、脐静脉内径及脐动静脉内径比值等指标,比较两组胎儿超声检测结果并进行统计分析。结果地中海贫血胎儿组的心脏横径、胸腔横径、心胸比值、脐静脉内径均显著大于正常胎儿组[(22.30±3.10)mmvs(16.70±3.01)mm,(43.50±5.70)mmvs(35.10±6.30)mm,(0.51±0.02)vs (0.46±0.02),(4.98±0.58) mm vs (3.82±0.64) mm,P<0.01]；脐动静脉内径比值显著小于正常胎儿组[(0.52±0.03) vs (0.66±0.06),P<0.01]。产前超声检查对地中海贫血组胎儿的正确诊断率为92.3%,对正常组胎儿组的正确诊断率为69.4%,地中海贫血组胎儿的诊断率显著高于正常组胎儿组,差异有统计学有意义(P<0.05)。结论产前超声检查可提高地中海贫血高危胎儿的筛查率,检查方法安全、有效,适合在基层医院推广。

关键词： 黎族   海南医学院   选择作用   细胞库   地中海贫血   分子流行病学   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:⑴地中海贫血的分子流行病学研究显示,黎族人群oc-和p-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： β地中海贫血   E选择素   血小板计数   组织因子  

摘要： 目的检测β地中海贫血（地贫）患者血浆可溶性E选择素（sE-sel）、血管性血友病因子（vWF）、组织因子（TF）、组织因子途径抑制物（TFPI）、凝血酶-抗凝血酶Ⅲ复合物（TAT）的水平及血小板计数（PLT），探讨广西地区β地贫患者是否存在内皮细胞的活化和损伤、TF和TFPI的失衡及血栓前状态。 方法应用ELISA法检测32例β地贫患者和10例正常人血浆sE-sel、vWF、TF、TFPI、TAT水平及自动血液学分析仪检测PLT。 结果1、PLT在中间型切脾组(623.89±210.92)×109/L和重型切脾组(523.89±83.62)×109/L均高于正常参考值及正常对照组(225.97±17.77)×109/L（P<0.05），中间型非切脾组(253.08±87.84)×109/L在正常参考值范围，且与正常对照组比较差异无统计学意义； 2、血浆sE-sel在中间型切脾组(127.79±33.69)μg/L、中间型非切脾组(86.69±33.14)μg/L及重型切脾组(81.27±36.18)μg/L均明显高于正常对照组（42.59±24.07）μg/L（P<0.05）；中间型切脾组明显高于中间型非切脾组和重型切脾组（P<0.05）； 3、中间型切脾组、中间型非切脾组及重型切脾组的血浆vWF、TF、TFPI、TAT水平与正常对照组比较差异均无统计学意义，且均在正常参考值范围内； 4、sE-sel与TFPI、sE-sel与PLT、脾切与PLT呈独立正相关（P<0.05）。 结论β地贫患者存在血管内皮细胞的活化损伤，以偶尔输血的中间型切脾患者最为严重。切脾的β地贫患者血小板计数持续异常升高。内皮细胞活化损伤和血小板计数持续异常升高可能会增加β地贫患者血栓栓塞的风险。

关键词： HVOD   地中海贫血   HSCT   D-二聚体   白舒非  

摘要： 研究背景 重型p地中海贫血(thalassemia major, TM)是p-珠蛋白链合成减少或消失,导致α-珠蛋白链不平衡和无效红细胞被破坏产生溶血性贫血的一种遗传性疾病。这种疾病在中国南方地区非常普遍。虽然规律输血加去铁治疗已显著改善了患者预期寿命。然而与铁过载相关的并发症并不能通过去铁治疗而治愈,同时一生输血很难遵守,唯一根治疗法依然是通过异基因造血干细胞移植(HSCT)替代缺陷红细胞生成。肝静脉闭塞病(Hepatic veno-occlusive disease, HVOD),又被成为窦性阻塞综合症(SOS),是异基因HSCT后一种常见的、严重的并发症。重度HVOD一旦发生,当前的治疗几乎是无效的。同时,HVOD仍然是导致移植相关死亡的一个重要因素。在早期的移植治疗中,HVOD的发病率在11%到54%之间。在近年的文献报道中,由于一些中心使用了不同的预处理方案和预防HVOD的方案,使得HVOD的发病率波动在0%至38%之间。在儿童病人中,HVOD的发病率在5%至40%之间。Sabloff, M. et al.在最近的文献报道中指出：HLA全相合同胞移植治疗地中海贫血中]3VOD的发病率是32%(58/179)。据既往文献报道,我中心地贫移植术后HVOD的发病率较以上报道更高。为了进一步提高地贫移植的效果,降低HVOD的发病率,我中心不断改进预处理方案,自2008年底开始使用独创的NP方案(NF-08-TM protocol)。该方案一个重要的改进是使用环磷酰胺后续白舒非(CY-BU)代替白舒非后续环磷酰胺(BU-CY)。该方案明显提高了无关供者外周血干细胞移植和HLA全相合同胞供者移植的治疗效果,并显著地降低了HVOD的发病率。近年来变更供者移植(ADT)在HSCT治疗地中海贫血的比例中明显升高,HVOD在ADT移植中的发病率如何是我们关心的一个问题。因此,我们对使用NP方案前后HVOD的发生及治疗情况进行总结分析。 西雅图标准(SC)和巴尔的摩标准(BC)是国际上用来诊断HVOD的两种通用标准。在一个大型单中心研究中报道,SC和BC诊断出HVOD的累积发病率分别是14%和8%。我中心分别使用这两种标准,诊断地贫移植术后HVOD,通过对两种标准诊断得出的结果分析研究,探讨哪种标准更适合用于地贫移植术后HVOD的诊断,以更有利于HVOD的早期发现和及时治疗,更好的指导临床工作。 研究目的 探讨NP预处理方案是否降低了HVOD的发病率；同时研究NP方案是否同样提高了地贫的移植效果以及南方分层标准是否预测了HVOD的发生情况。通过对SC和BC两种诊断标准的分析比较,探讨哪种诊断标准更适合应用于地贫移植术后HVOD的诊断。探讨HVOD在变更供者移植中的发病率情况。 研究方法 分析2003年2月～2013年6月于我中心行异基因HSCT的重型p-地中海贫血患儿309例(共311次移植)。其中男200例,女111例,年龄1.0-17岁,中位年龄6岁。中位随访时间35个月(范围6-130个月)。183例接受变更供者移植(alternative donor transplant ADT)(无关供者156例,父母供者27例),128例行同胞移植。按南方分层标准,311例患儿中1度、2度、3度病人分别是30(9.6%)、244(78.5%)、37(11.9%)。其中241(77.5%)例病人接受NP预处理方案,该方案包括：a,环磷酰胺后续白舒非(Cy-Bu, Bu连续使用3天,保持稳定的Bu浓度为300-600ug/ml),福达拉滨(Flu),塞替派(TT),抗胸腺免疫球蛋白(ATG); b,环孢素A (CsA)、甲氨蝶呤(MTX)和骁悉(MMF)来预防急性移植物抗宿主病(GVHD); c,逐渐递增的肝素(LSDH,按初始剂量为100u/kg/day每天升高10%的量直至加量至200u/kg/day,或者略高于正常APTT值的上限,直至移植后+20天,前提是没有出血倾向或者没有血小板小于10×10∧9/L),联合熊去氧胆酸(从移植前-10天开始口服,12mg/kg,直至移植后+90天)来预防HVOD。70例病人接受非NP方案(non-NP)预处理。HVOD的诊断采用SC和BC两种方法。根据地贫患儿年龄、肝脏大小和铁蛋白水平,将重型地中海贫血分为Ⅰ度、Ⅱ度和Ⅲ度。比较两种不同预处理方案下HVOD的发病率和HVOD相关死亡率；两种方案下移植的总生存率,不同疾病分层下HVOD的发病率；两种诊断标准下HVOD的发病特点。 预处理方案、HVOD预防 241例患儿采用我中心NP新预处理方案,新方案主要由环磷酰胺CY(-10天～-9天),氟达拉滨Flu(-8天～-4天),静脉马利兰Bu(-8天～-6天),塞

关键词： chelation therapy   iron overload   beta-thalassemia   sickle cell syndromes  

摘要： In patients with beta-thalassemia and sickle cell syndromes there is an important secondary iron overload due to regular blood transfusions and increased duodenal iron absorption. As in genetic hemochromatosis, also the secondary iron storage leads to tissue injury that involves all the major organs: liver, heart, kidney, endocrine glands. At present, in patients with beta-thalassemia and sickle cell syndrome, iron chelation therapy is widely used for the treatment of secondary hemochromatosis, to limit the toxic effects of iron overload. In order to maintain the correct homeostasis, several genes are involved in the metabolic pathways of iron, including HFE, FPN (ferroportin) and TF (transferrin). In this study we analyzed the genes HFE, FPN and TF, to assess their possible effects on response to therapy with deferasirox and deferiprone, either as monotherapy or in combination therapy in a cohort of patients with beta-thalassemia and sickle cell syndromes.

关键词： Major thalassemia   Selenium   South-east of Iran  

摘要： Introduction: There are limited reports about selenium status in major thalassemia patients. The aim of this study is evaluation of selenium status in patients with major thalassemia south east of Iran with large sample size and wide range of age. This study compared selenium status with other sites of the world.;Methods: In this study 369 cases that had major thalassemia for more than 5 years were enrolled in the study. Selenium level was measured in all eligible patients after 12 hours fasting by graphite enstrum furnace atomic absorption spectrometry in south east of Iran in 2012.;Results: Of 369 cases, 333 eligible patients were evaluated. Mean age was 15.63±7.4 years. One hundred ninety two cases were male and others were female (141 Cases). About 27% (90) of the cases were 5-10 years-old, 24 % (80) were 10-15 years-old and 49% were more than 15 years-old. Iron chelator in 62.2% was Dessferrioxamine, in 15.5% was Deferiprone and in 22.3% was combination of Dessferioxamine and Deferiprone. Totally 85 cases (25.52%) had Selenium deficiency, 35.43% (118 cases) had normal levels and 39 %(130 cases) had selenium excess.;Conclusion: Our study on 333 major thalassemia cases documented variable status of selenium from deficiency to higher than normal levels. It was different with other reports in the world. © 2014, Tehran University of Medical Sciences (TUMS). All rights reserved.

关键词： beta-thalassemia   awareness programs   epidemiology   prenatal diagnosis   India  

摘要： The beta-thalassemias and sickle cell disorders pose a major health burden in the large and diverse Indian population. Education programs for awareness generation are being done by National Institutions, non-governmental organizations and Thalassemia Societies in different states. Several extensive epidemiological studies have shown that there are many non-tribal and tribal communities where the prevalence of beta-thalassemia carriers is much higher (5.3 to 17.0%) than the average of 3 to 4% projected for the entire country. These variations have also been shown within small geographic regions in some states, emphasizing the need for micro mapping to estimate the true burden of disease. There are 10 to 12 centers where prenatal diagnosis for hemoglobinopathies is done and the Indian Council of Medical Research is establishing additional regional centers in states where they are most needed. Sixtyeight beta-thalassemia mutations have been described so far among Indians and the knowledge on their prevalence and regional distribution has helped to undertake prenatal diagnosis in a cost effective way.