珠蛋白生成障碍性贫血药物治疗研究进展

珠蛋白生成障碍性贫血是严重危害人类健康的遗传性疾病,该病为遗传性溶血性贫血,预后较差,至今尚无有效的治疗方法。本文就药物治疗的进展及对策和中医药治疗本病的前景作一回顾,希望对研究治疗本病提供参考依据。     

珠蛋白生成障碍性贫血的铁螯合剂治疗

铁螯合剂的应用能显著改善珠蛋白生成障碍性贫血患儿的生活质量,延长其生存时间.除去铁胺外,近10 a来随着新型口服制剂去铁酮和去铁斯若分散片的使用,不但使铁螯合的疗效得到了进一步提高,且使用越来越方便,不良反应少,患者的依从性得到显著提高.现对已在临床应用的3种铁螯合剂的作用机制、临床应用、药物不良反应及不同剂型之间联合应用的研究现状作一综述.     

珠蛋白生成障碍性贫血患儿血清促红细胞生成素变化

目的 检测珠蛋白生成障碍性贫血(地贫)患儿血清促红细胞生成素(EPO)含量，为探讨其临床治疗的有效措施提供依据。方法 应用酶联法检测25例β地贫、17例血红蛋白H病(HbH病)和25例健康对照组儿童血EPO含量。结果 重型β地贫患儿EPO含量最高，其次为中间型β地贫患儿，最后为HbH病患儿，均明显高于健康对照组，各组间差异均有统计学意义(P＜0．05和P＜0．001)，各组儿童与成人EPO含量差异无统计学意义(P＞0．05)。结论 地贫患儿EPO含量增高，因贫血程度不同而有所差异。     

泸州地区β-珠蛋白生成障碍性贫血患儿及其父母基因分析

目的 检验泸州地区β-珠蛋白生成障碍性贫血(β-地贫)患儿及其父母地贫基因,寻找泸州地区引起该病的主要致病基因突变位点,并探讨其与临床病变程度的关系.方法 采集40例β-地贫患儿及其父母外周血,根据临床表现和实验室检查分为重型组(14例)和非重型组(26例),提取DNA,采用PCR和DNA反向点杂交法进行β-地贫基因突变位点分析.结果 40例β-地贫患儿共检测出7种基因突变类型,有14种基因组合形式.其中以CD17(A→T)、CD41/42(- TTCT)和IVS-Ⅱ-654(C→T)最多见.14例重型β-地贫患儿中,突变纯合子8例,双重杂合子6例,其父母均为杂合子.结论 β-地贫患儿基因突变符合遗传规律;重型β-地贫患儿基因型为纯合子或双重杂合子,其发病年龄早,输血间隔时间短,输血量大.     

珠蛋白生成障碍性贫血研究进展

珠蛋白生成障碍性贫血(地贫)是一组遗传性慢性溶血性疾病,有地域性,临床表现轻重不一.不同类型的临床表现、实验室检查和治疗方法不尽相同.现对地贫发病机制、分类、临床表现、检测和防治措施作一简要介绍.     

桂林地区少见β-珠蛋白生成障碍性贫血基因突变分析

目的 分析桂林地区少见的β-珠蛋白生成障碍性贫血(β-地贫)的基因突变类型.方法 收集2005年5月- 2010年12月桂林地区11 941份检测血标本.男2 066例,女9 875例;年龄2个月～ 74岁.采用血细胞学检测红细胞平均容积和红细胞平均血红蛋白、血红蛋白电泳定量HbF、HbA2,初筛出β-地贫,PCR-反向斑点杂交同时检测17种中国人常见的β-地贫基因突变确定其基因型,对于常规基因检测不能确诊的基因突变,采用DNA直接测序法.结果 982例确诊为β-地贫的标本中,911例为轻型,71例为重型,共1 053条11号染色体携带了β珠蛋白缺陷基因,检出了 24例6种少见的β-地贫基因突变,其中IVS-Ⅰ-1(G→T)10例,CD43(G→T)6例,CD27-28(+C)、CD37( TGG→TAG)各3例,CD31(-C)、- 73 (A→T)各1例.结论 桂林地区β-地贫基因突变类型丰富,有明显的地域性,在地贫的诊断和产前诊断中应加以重视.     

脾切除术治疗α珠蛋白生成障碍性贫血临床观察

α珠蛋白生成障碍性贫血是一种较为常见的遗传性贫血症,广西发病为全国之最,发生率达14.95%[1]。我院1990年至2003年来行脾切除术治疗该病,现将临床资料分析如下。资料与方法一、一般资料本组共48列,男36列,女12列;年龄4岁6个月～16岁,平均9岁8个月。诊断:按1987年全国溶血性贫血专题学术会议(上海)讨论制定的血红蛋白诊断标准,以临床表现、血液学检查、生化检查、遗传家系调查确诊为地中海贫血α型(血红蛋白H病)[2]。本组Hb36～76g/L,(平均36g/L),起病缓慢,并有不同程度黄疸及脾肿大(肋下3～10cm不等)。二、方法采用脾切除术治疗α地中海…     

中间型β珠蛋白生成障碍性贫血的分子基础

β珠蛋白生成障碍性贫血(简称β地贫)是华南地区高发的遗传病之一,依据临床可依次划分为轻型、中间型和重型地贫.其中中间型β地贫是一组尚难以根据β珠蛋白基因型来准确诊断和预测临床表型的疾病,故其分子基础的系统研究倍受关注.中间型地贫发病的分子基础主要包括α、β和γ珠蛋白基因3种主要修饰因素,以及部分新发现的二级修饰因素.阐明中间型β地贫的分子病理学机制对于指导临床诊治、遗传咨询和病例随访具有重要意义.     

葡萄糖-6磷酸脱氢酶活性对珠蛋白生成障碍性贫血的辅助诊断价值

目的探讨葡萄糖-6磷酸脱氢酶（G-6PD）活性对珠蛋白生成障碍性贫血（地贫）的辅助诊断价值及其适用范围。方法采用琼脂糖凝胶血红蛋白电泳和（或）地贫基因检测、血常规、血清铁蛋白、G-6PD活性测定筛选940例儿童样本,将其分为3组（A组820例为单纯地贫患儿,B组40例为单纯缺铁性贫血（IDA）患儿,C组80例为健康对照组）,并对其G-6PD值进行相关统计分析。结果血红蛋白H（HbH）病、重型β地贫、中间型β地贫、IDA、轻型β地贫、α复合β地贫、轻型α地贫的G-6PD活性水平分别为（35.23±7.11）、（34.95±10.72）、（26.64±10.85）、（23.86±7.68）、（19.89±5.99）、（18.65±6.67）、（16.75±5.49）NBT单位,与健康对照组比较均有显著性差异（Pa〈0.05）。G-6PD值辅助诊断HbH病及重型β地贫最优的临界点为25.75 NBT单位,ROC曲线下面积（Az）为0.903,灵敏度和特异度分别为83.1%、85.1%。αα/-α^3.7和αα/-α^-4.2二种静止型α地贫G-6PD值分别为（14.61±4.19）和（13.14±3.99）NBT单位,17M杂合子和41-42M杂合子2种轻型β地贫G-6PD水平分别为（18.77±6.81）和（22.94±7.43）NBT单位,经统计学分析无显著性差异（P〉0.05）。结论G-6PD活性对地贫的辅助诊断有一定价值,但有其适用范围,适用于HbH病及重型β地贫,不适用于地贫基因类型的鉴别。     

广西崇左市江州区儿童珠蛋白生成障碍性贫血表型阳性率调查

目的 了解广西崇左市江州区儿童珠蛋白生成障碍性贫血(地贫)表型阳性率.方法 对广西崇左市江州区城区11所幼儿园2 073例3～6岁儿童(男1 151例,女922例)进行血细胞分析.分别采其指血20～30 μL,置于乙二胺四乙酸(EDTA)钾抗凝管内静置5 min以上混匀,采用法国ABX Micros 60全自动血细胞分析仪,采用电阻阻抗法测试,Hb采用氰化高铁血红蛋白法,采用细胞体积和Hb量计算平均红细胞体积(MCV).试剂采用广东浩江医学科技有限公司生产的HL1型血细胞分析仪用溶血剂、HD1型血细胞分析仪用稀释液及HC2型清洗液按操作说明进行检测.结果 MCV<79 fL儿童492例,检出率23.73%.男264例,占53.66%;女228例,占46.34%.Hb<110 g/L 73例,检出率 3.5%;男39例,占53.4%,女34例,占47.6%.Hb<90 g/L 8例,检出率0.39%;男、女各4例(50%).结论 广西崇左市江州区儿童地贫表型阳性率高,应加强崇左市地贫的研究与防治工作.     

Effect of Oxidative Stress on Membrane Proteins in Thalassemia and Iron Deficiency Anemia

Objective  

To evaluate the effect of oxidative stress on membrane proteins according to relationship between malondialdehyde (MDA) levels and membrane protein ratios in different two patient groups.     

Iron Deficiency: Beyond Anemia

Iron deficiency is the most common nutritional disorder affecting at least one third of world’s population. Though anemia is common manifestation of iron deficiency, other effects of iron deficiency on various tissues, organs and systems are usually under recognized. Impaired brain development and cognitive, behavioural and psychomotor impairment are most worrisome manifestations of iron deficiency. Studies have demonstrated that some of these changes occurring during period of brain growth spurt (<2 years age) may be irreversible. Association of iron deficiency with febrile seizures, pica, breath holding spells, restless leg syndrome and thrombosis is increasingly being recognized. Impaired cell-mediated immunity and bactericidal function are generally noted in iron-deficient persons; however, the findings are inconsistent. Despite proven reversible functional immunological defects in vitro studies, a clinically important relationship between states of iron deficiency and susceptibility to infections remains controversial. Studies from malaria endemic regions have reported increased incidence of malaria in association with iron supplementation. These and some other aspects of iron deficiency are reviewed in this article.     

儿童缺铁和缺铁性贫血的防治

缺铁和缺铁性贫血(IDA)是目前全球四大营养缺乏性疾病之一,我国儿童缺铁和IDA总体发病率接近50%,严重危害儿童的生长发育与健康水平。现结合中华医学会儿科学分会于2008年修订的《儿童缺铁和缺铁性贫血诊断标准和防治建议》,总结以往经验体会,对防治儿童缺铁和IDA目前可能存在的问题、诊断要点和防治经验,密切结合临床实际,提出防治方法方面的具体建议与措施。     

儿童幽门螺杆菌感染与缺铁性贫血的关系

目的探讨儿童幽门螺杆菌（Hp）感染与缺铁性贫血（IDA）之间的关系。方法对90例有消化道症状的患儿进行胃镜检查和Hp检测,根据检查结果分为Hp阳性观察组和Hp阴性对照组。病例均检测血常规、血清铁（SI）、血清铁蛋白（SF）、总铁结合力（TIBC）等IDA指标。结果观察组44例中IDA23例,IDA发病率为52.27%;对照组46例中IDA8例,IDA发病率为17.39%;二者比较差异有统计学意义（χ^2=12.12P〈0.05）。结论儿童Hp感染与缺铁性贫血有关,Hp感染可能为IDA的发病因素之一。     

Effect of Twice Weekly Versus Daily Iron Treatment in Turkish Children with Iron Deficiency Anemia

This study was designed to propose a more practical, effective, safer, inexpensive, and manageable alternative treatment of iron deficiency anemia (IDA) for the developing countries. The study involves 94 children between the ages of 5 months and 6 years who had been seen in the authors' hospital and diagnosed as having iron deficiency anemia. Ninety-four children with IDA were randomly divided into two groups: 48 children comprised the first group, which was administered conventional treatment, and 46 children comprised the second group, which was administered intermittent treatment involving iron administration 2 days a week. Twenty-three children whose age and gender distribution were compatible with the other groups were included in the study as the control group. Both groups were reevaluated for their initial hematologic parameters at the end of the treatment. When the parameters of both groups were compared with the parameters of the control group after the treatment, there were no differences between hemoglobin, hematocrit, red blood cell, mean corpuscular volume, mean corpuscular hemoglobin concentration, serum iron, and ferritin levels of conventional and intermittent treatment groups. With respect to certain parameters, such as red cell distribution, serum iron binding capacity, transferrin saturation, transferrin receptor, and transferrin receptor/log ferritin, however, intermittent treatment was superior to the conventional treatment method (p < .05). In IDA, when a conventional treatment method or an intermittent treatment method is used, there are no differences between the hematological parameters. In fact, the intermittent treatment method has been found to be superior in many parameters.     

Moyamoya Syndrome Associated with Severe Iron Deficiency Anemia in a Young Child

A 3-year-old boy presented with recurrent strokes and pallor. Hematological investigations revealed severe iron deficiency anemia without thrombocytosis. The magnetic resonance angiogragraphy findings were suggestive of moyamoya syndrome. The association of moyamoya syndrome with severe iron deficiency anemia has not been reported earlier. The likely pathophysiological mechanisms are discussed.