关键词： 输血   除铁灵   重型β地中海贫血   临床观察  

摘要： 目的重型β地中海贫血患者长期进行输血治疗,出现过多的铁负荷,观察除铁灵对重型β地中海贫血的驱铁效果。方法选取经确诊为重型β地中海贫血患者28例进行观察,随机分为对照组12例与治疗组16例,对照组患者采取输血治疗;治疗组患者在进行输血治疗的同时,结合除铁灵进行治疗,经过联合治疗,检查患者血液中血清蛋白以及患者的肝功能情况,并且对患者的生长发育情况进行详细的观察。结果重型β地中海贫血患者经过长期的输血治疗,血液中的铁含量明显比正常范围要高,导致患者出现明显的铁负荷,结合除铁灵治疗之后,患者血液中的血清铁蛋白含量明显下降,与治疗前相对比,具有明显差异,有统计学意义(P<0.05)。结论对重型β地中海贫血进行输血以及除铁灵结合治疗,能够有效治疗患者血液中铁负荷过多的症状,疗效明显、安全,并且没有出现明显的毒副反应,具有良好的临床价值,值得推广。

摘要： 地中海贫血又称海洋性贫血(Thalassemiao是一组遗传性溶血性贫血。其共同特点是由于珠蛋白基因的缺陷使血红蛋白中的珠蛋白肽链有一种或几种合成减少或不能合成。导致血红蛋白的组成成分改变,本组疾病的临床症状轻重不一,大多表现为慢性进行性溶血性贫血。[第一段]

摘要： BACKGROUND AND OBJECTIVES: MRI-R2* has been accepted as a clinical tool for monitoring iron overload in thalassemia patients, especially for monitoring liver iron concentration (LIC). The most optimal and practical method of analysis however, is still open to further investigations. Our objective was to investigate intra and intersite observer variability of the pixel-wise method for liver R2* analysis in thalassemia patients using a monoexponential with a constant offset model. Patients and Methods: We performed 88 liver R2* measurements on 72 thalassemia major patients. A single breath-hold multi-echo gradient-echo sequence was acquired and analyzed at both the reference (REF) and local (LOC) sites. The analysis defined the region of interest in the whole liver parenchyma, excluding the great vessels, and were reported as median values. Results: The R2* values from the REF and LOC were statistically comparable for all comparisons. The intrasite and intersite observer variation were 0.75% (less than 0.9%) and 2.5%, respectively, both of which are comparable to previous reports, but substantially lower than conventional region-based approaches. Conclusion: The low variation of the R2* also yielded excellent variation in the tabulated hepatic iron content. However, caution is required when comparing the results to different implementation methods and appropriate evaluation and validation of methodology for any new scan site is essential before its clinical use.

关键词： Beta-Thalassemia   Hypertransfusion   Spinal Cord Compression  

摘要： Hereby we report a patient with thalassemia major having extradural cord compression at T3-T9 levels due to a mass of extramedullary hematopoiesis (EMH) tissue, whose treatment was successful with hypertransfusion therapy alone. The patient was a 23-year-old man who had not received regular blood transfusion since two years before admission. He suffered from paraparesis with a history of progressive lower limb weakness for 2 months. MRI of the spinal cord demonstrated thoracic extramedullary hematopoietic mass causing spinal cord compression. The patient demonstrated a significant response to hypertransfusion and improvement in the neurologic status started a few days after treatment. Almost complete resolution of the mass was seen in spinal MRI one week after hypertransfusion. Hypertransfusion seems to be a useful method for treatment of spinal cord compression due to a hematopoietic mass. It may be used as the first line therapy. Copyright (C) 2012, Tehran University of Medical Sciences and Iranian Society of Radiology. Published by Kowsar Corp. All rights reserved.

关键词： 速度向量成像   重型地中海贫血   内外膜心肌   收缩功能异常  

摘要： 目的： 应用速度向量成像（velocity vector imaging,VVI）技术分析正常儿童左心室收缩功能测值特点，评价重型地中海贫血患儿左心室收缩功能的异常改变。 方法： 对40例正常儿童及80例地中海贫血患儿行常规超声心动图检查。患儿按照血清铁蛋白（serum ferritin, SF）水平分为A、B两组：A组SF＜2500μg/L，40例；B组SF≥2500μg/L，40例。用VVI软件分别测量：1、左室各节段内、外膜心肌纵向收缩期峰值速度（longitudinal velocity，LV）、位移（longitudinaldisplacement，LD）、应变（longitudinal strain，LS）及应变率（longitudinal strainrate，LSR）；2、左室各水平内、外膜心肌径向收缩期峰值速度（radial velocity，RV）、位移（radial displacement，RD）、应变（radial strain，RS）及应变率（radialstrain rate， RSR）；3、左室各水平内、外膜心肌圆周向收缩期峰值应变（circumferential strain，CS）、应变率（circumferential strain rate，CSR）。 结果： 1、正常组不同方向VVI测值存在一定规律： ①纵向测值中，左室内、外膜收缩期峰值速度、位移、应变及应变率各参数都以基底段最高，中间段次之，心尖段最低，即基底段＞中间段＞心尖段；其中各节段LV、LD的差异较各节段LS、LSR的差异大。 ②径向测值中，左室内、外膜收缩期峰值速度、位移、应变及应变率各参数都以中间水平最高，基底水平次之、心尖水平最低，即中间水平＞基底水平＞心尖水平；其中各水平RS、RSR的差异较各水平RV、RD的差异大。 ③圆周向测值中，左室内、外膜收缩期峰值应变、应变率各参数都以心尖水平最高，中间水平次之，基底水平最低，即心尖水平＞中间水平＞基底水平；其中内膜各水平CS、CSR的差异较外膜各水平CS、CSR的差异大。 2、正常组三个方向的整体VVI测值中，外膜测值均较内膜低，差异有统计学意义（P＜0.05）。 3、与正常组比较，地中海贫血A组、B组各常规超声心动图参数及左心室心肌重量均无显著性差异（P＞0.05）。 4、与正常组比较，地中海贫血A组、B组的纵向、径向及圆周向VVI测值均出现异常变化：①地中海贫血患儿B组纵向大部分节段和整体VVI参数、圆周向大部分水平和整体VVI参数减低，而径向各水平和整体VVI参数增高，与正常组差异有统计学意义（P＜0.05）；A组部分节段和整体LSR减低，部分水平和整体CS、CSR减低，部分水平和整体RS、RSR增高，与正常组差异有统计学意义（P＜0.05）。 ②地中海贫血患儿B组节段、水平和整体VVI测值与正常组间差异（P＜0.01）较A组节段、水平和整体VVI测值与正常组间差异（P＜0.05）大，A、B两组间部分节段、水平和整体VVI测值差异有统计学意义（P＜0.05）。 ③地中海贫血患儿A组的纵向VVI参数以基底段减低明显，圆周向VVI参数以心尖水平减低明显。 ④地中海贫血患儿B组部分节段、水平和整体LSR和CSR与正常组间差异（P＜0.01）较其余VVI参数与正常组间差异（P＜0.05）大。 ⑤地中海贫血患儿组（主要为B组）心内膜和外膜VVI测值均出现异常变化，其中内膜各节段和整体LSR与正常组间的差异（P＜0.01）较外膜各节段和整体LSR与正常组间的差异（P＜0.05）大。结论： 1、正常儿童左室纵向、径向和圆周向VVI参数在不同节段、不同水平上存在一定规律，即纵向：基底段＞中间段＞心尖段，径向：中间水平＞基底水平＞心尖水平，圆周向：心尖水平＞中间水平＞基底水平。正常儿童三个方向的整体VVI内膜测值均＞外膜。 2、VVI技术能无创、较准确的评估地中海贫血患儿心脏三个方向（纵向、径向、圆周向）的收缩期运动，并能发现常规超声不能检出的重型地中海贫血患儿心脏收缩期运动异常： ①射血分数正常的地中海贫血患儿左室收缩功能处于亚临床性降低阶段。 ②SF水平较高组的地中海贫血患儿心肌功能受损较严重。 ③地中海贫血患儿心肌运动力量较大的部位收缩功能受损较早。 ④地中海贫血患儿VVI参数中，应变率指标较速度、位移和应变指标更敏感的反映心肌收缩功能的异常改变。 ⑤地中海贫血患儿内膜和外膜心肌均受到损害，其中内膜心肌损害较外膜心肌严重。

关键词： Vitamin E   Hemopoietic System   Liver Function Tests  

摘要： Background beta-Thalassemic children have oxidative stress and antioxidant deficiency even without iron overload status. In these patients, tissue damage due to oxidative stress may be occurred. Also, it seems that thalassemic patients have higher levels of ALT, AST therefore, the main aim of the present study was to determine the benefits of vitamin E as an antioxidant supplements in beta-Thalassemia children. Materials and Methods This clinical trial was carried out on 45 beta-thalassemic patients undergoing occasional transfusions (24 males, 21 females), mean age 16 +/- 8 years, admitted to Yazd and Shahid Sadoughi hospital in 2011. Fallowing three months treatment of vitaminE (vitamin E 400-600 unit/day), liver function test and hemopoitic system parameters were measured. Results Fourty five patients with laboratory confirmation of beta-Thalassemia were recruited following three months vitamin E supplementation, liver function test had higher improvement compared to hemopoitic system parameters, and also serum SGOT was significantly reduced (P-value<0.004). Conclusion It seems clear that treatments of beta-thalassemic patients with vitamins E have benefits in promoting antioxidant status and may improve liver function test, as AST and ALT to decrease but this supplement is not effective for hemopoietic system variables.

关键词： Epidemiology   Hepatomegaly   Liver   beta-Thalassemia  

摘要： Background Frequent blood transfusion in patients with beta thalassemia major can lead to iron overload especially in liver. Chronic iron overload could cause cirrhosis of the liver. Transfusion-transmitted hepatitis B and C also could develop cirrhosis in individuals. Materials and Methods The present cross-sectional descriptive study is to assess hepatomegaly and liver enzymes in 100 patients with beta thalassemia major, ages between 2-18 years old. The study was carried out retrospectively. One hundred medical records have chosen from 400 samples of thalassemia major patients, who are under a regular care of the department of sarvar clinic. Results Out of these patients, 55% were male and 45% female. The mean age of thalassemia patients was 10.8 +/- 4.4 years. The mean and S. D of hemoglobin, ferritin, deferoxamine dosage was 8.5 +/- 1.5g/dl, 2183 +/- 1528 ng, 30 +/- 11.16 mg/kg, respectively. Forty six percent of them had hepatomegaly. The mean and S. D of AST and ALT were 95 +/- 70 IU/L and 70 +/- 35U/L respectively. Splenectomy was performed on 44% of patient. Conclusion Hepatomegaly is one of the most common findings in the thalassemic patient that induced with hemosiderosis and hepatitis.

关键词： 石阡县   地中海贫血  

摘要： 汪正年说,无论如何,他不会放弃,他要留住女儿树琳。2012年的这个冬天,对于贵州省铜仁市石阡县而言,雨季格外漫长,这也无疑加剧了眼前的严寒。从贵阳通向石阡县的高速公路正在山下修建,距离农民汪正年家步行约半个小时。在以往还算不错的天气,这位32岁的

关键词： 重型β-地中海贫血   HbF   γ-珠蛋白表达   BCL11A基因   基因多态性  

摘要： 目的：探讨我国广西重型β-地中海贫血BCL11A基因rs11886868、rs1427407及rs766432多态性与其HbF水平及Y-珠蛋白表达的相关关系。 方法：收集无亲缘关系的广西籍重型β-地中海贫血患者(按是否治疗分为治疗组与未治组)及正常对照者的外周血,2ml提取基因组DNA并应用聚合酶链反应(Polymerase chain reaction, PCR)、限制性片段长度多态性(Restriction fragment length,RFLP)及DNA测序技术,对我国广西重型β-地中海贫血患者BCL11A基因rs11886868、rs1427407及rs766432三个位点多态性进行检测,统计基因型频率,分析上述位点与正常对照组分布频率的差异,并分析重型β-地中海贫血未治组患者三位点多态性与HbF水平的相关关系。2ml提取单个核细胞中的总RNA,并逆转为cDNA,采用SYBR GreenⅠ实时荧光定量RT-PCR中相对定量分析方法,以β-actin基因为参照基因,分别检测两组重型β-地贫患者中BCL11A基因rs766432位点中不同基因型中Y-珠蛋白基因的表达差异。采用相对定量双标准曲线法进行Y-珠蛋白基因mRNA相对表达量的比较,分析该位点不同基因型与Y-珠蛋白基因表达的相关关系。 结果：重型β-地贫未治组BCL11A基因rs1427407和rs766432位点各基因型分布与正常对照组对比有统计学差异(P<0.001；P<0.001),突变基因型的频率明显高于正常对照组,rs11886868位点各基因型分布两组比较无统计学差异(P>0.05)。在两组重型β-地贫患者中,基因型分布与三个多态性位点有较大关联(P<0.001,Cp=0.477)。重型β-地贫未治组中,rs11886868位点不同基因型之间HbF水平差异无统计学意义(P>0.05)。rs1427407位点和rs766432位点突变基因型HbF水平较未突变基因型高,各个基因型之间比较有统计学差异(P<0.001,P<0.001),相关性分析显示基因多态性与HbF水平有关(rp=0.931,P<0.001；rp=0.915,P<0.001)。而且,在p-地贫患者及正常人身上均发现了rs766432位点基因突变大部分伴随rs1427407位点基因突变,且突变类型绝大部分相同。用荧光定量RT-PCR分别对两组重型β-地中海贫血患者BCL11A基因rs766432位点不同基因型进行分析得出,两组中三种基因型γmRNA相对表达量比较有统计学差异(P<0.001,P<0.05),通过两两比较得知,未治组中,三种基因型γmRNA相对表达量各不相同；治疗组中,CC型比AA型γmRNA表达量增高。相关性分析显示基因多态性与γmRNA表达有关(rp=0.924,P<0.001；rp=0.567,P<0.05)。 结论：(1)在重型β-地贫未治患者中,BCL11A基因rs1427407和rs766432位点基因突变频率明显高于正常对照组,rs1427407和rs766432位点突变基因型HbF水平较未突变基因型高,证实这两个位点基因多态性与HbF水平有关,rs1427407和rs766432位点基因突变可能提高HbF水平。(2)两组重型β-地中海贫血患者基因型分布与三个多态性位点有较大关联。(3)rs1427407和rs766432位点基因突变可能存在个体重叠性,两位点基因突变之间可能存在一定关联。(4)两组重型β-地贫患者rs766432位点基因多态性与γmRNA表达有关,基因突变可能使Y-珠蛋白基因表达量增高,未治组中两者的关系更加明显。

关键词： Hypothyroidism   beta-thalassemia   Epidemiology  

摘要： Background Hypothyroidism usually appears in the second decade of life and is thought to be associated with iron overload in patients with thalassemia major. This study aimed to evaluate thyroid dysfunctions in patients with beta-thalassemia major. Materials and Methods This research is a descriptive-cross sectional study, carried out in 2009 to assess thyroid function in 100 patients with beta thalassemia major at the ages between 2-18 years. The study was carried out retrospectively and 100 medical records from 400 samples of thalassemia major patients, under regular care of Sarvar Clinic, were assessed. Thyroid function and iron load status were evaluated by measuring the serum total triiodothyronine (T4), thyroidstimulating hormone (TSH) and ferritin levels from the serum of patients, admitted to the Sarvar Clinic. TSH and T4 concentrations were estimated by enzyme-linked immunosorbent assay (ELISA). Primary hypothyroidism was defined by a TSH level > 4 mu IU/ml. Results were analyzed by descriptive statistical methods, with the help of SPSS software. Results Subclinical hypothyroidism was seen in 7% patients. All of them had normal T4 levels with elevated TSH levels, consistent with a diagnosis of subclinical hypothyroidism. Mean age of hypothyroid patients was 10.2 +/- 2.5 years. Frequency of hypothyroidism was associated with increased serum ferritin levels (p=0.037). Conclusion Subclinical hypothyroidism occurs in a significant proportion of thalassaemia major patients in the absence of obvious clinical signs of hypothyroidism. Regular follow-up for early detection and timely treatment of such complications could improve the quality of life of these patients.