改良单管多重PCR检测低平均红细胞体积儿童3种缺失型α地中海贫血基因

目的调查广西地区平均红细胞体积(MCV)<80fL儿童中3种缺失型α地中海贫血基因(即SEA、α3.7和α4.2)的携带率及基因型。 方法2004年6~12月，广西医科大学第一附属医院优化前人建立的单管多重聚合酶链反应(mPCR)技术，并用22例已知基因型的α地中海贫血DNA标本加以验证，运用此方法检测78例MCV<80fL的儿童。 结果经单管mPCR方法检测的22例α地中海贫血，所得基因型与已知基因型一致。78例MCV<80fL儿童中共检出37例缺失型α地中海贫血基因携带者，检出率为47.4%其中SEA缺失型杂合子(SEA/αα)29例，α3.7缺失型纯合子(α3.7/α3.7)6例，α3.7和α4.2缺失型双重杂合子(α3.7/α4.2)1例，HbH病(SEA/α3.7)1例。SEA缺失型等位基因检出最多，在78例受检者156条染色单体中，其携带频率为19.2%(30/156)，α3.7和α4.2缺失型分别为9.0%和0.6%。 结论单管mPCR技术能快速、准确地检测SEA、α3.7和α4.2基因，经优化后，可使该技术更为简便。缺失型α地中海贫血是广西地区儿童MCV降低的主要原因之一。     

应用平均红细胞体积测定法及红细胞脆性一管定量法筛查地？…

目的 探讨平均红细胞体积（ＭＣＶ）测定法（ＭＣＶ法）及红细胞脆性一管定量法（一管法）在筛查地中海贫血中的准确性及其应用价值。方法 用ＭＣＶ法和一管法检查９８９对夫妇,并随机抽取其中７９对进行聚合酶链反应（ＰＣＲ）法检测,同时检测孕妇血清铁蛋白以排除缺铁性贫血。结果 ＭＣＶ法的轻型地中海贫血检出率为９．０％、敏感度为９８．９％,一管法的轻型地中海贫血检出率为８．１％、敏感度为８８．６％,两者比较,差     

妊娠合并轻型地中海贫血的筛查及妊娠结局的回顾性分析

目的:探讨妊娠合并轻型地中海贫血筛查的方法及意义,以及对妊娠结局的影响。方法:选择5年间系统产前检查并住院分娩的孕妇资料共5 431例,回顾性分析孕期轻型地贫筛查方法、异常妊娠史的发生率及妊娠结局的差异。结果:5 431例患者中,地贫组2 4 1例,占4 .4 %。地贫组红细胞平均体积(MCV)及平均红细胞血红蛋白含量(MCH)明显低于非地贫组和对照组(P <0 . 0 1) ,而RBC计数明显高于后两组(P <0 0 1)。地贫组和非地贫组的异常妊娠发生率明显高于对照组(P <0 . 0 1)。地贫组和非地贫组的剖宫产率、早产率明显高于对照组(P <0 . 0 5 ) ,3组间新生儿体重的平均值无显著性差异(P >0 .0 5 )。结论:检测MCV、RBC计数可作为筛查轻型地贫的指标,轻型地贫患者能够妊娠至足月并分娩,但胎儿宫内生长发育会受一定的不利影响,应加强产前检查。     

妊娠合并地中海贫血

地中海贫血是世界范围内常见的、对人类健康影响极大的单基因遗传疾病之一,在我国以广东、广西、云南等地区较为常见,妊娠合并地中海贫血可造成严重的围产期并发症和不良妊娠结局。地中海贫血的分型和诊断需靠产前筛查和基因检测才能确诊。加强产前筛查和产前诊断,对降低地中海贫血患儿的出生率、提高其家庭的生活质量以及减轻社会经济负担具有重大意义。     

妊娠合并地中海贫血的研究进展

地中海贫血是全球发病率最高的单基因遗传病,也是造成较大危害的血红蛋白病之一,在我国尤其以长江以南地区高发。重型和部分中间型地中海贫血患儿的出生给社会和家庭带来了巨大的负担,因此对该病的产前筛查和产前诊断尤为重要。随着对该病的防治水平越来越高,即使是重型地中海贫血妇女也能顺利存活到生育年龄,而她们对生育的需求也逐渐成为大家的关注热点。     

妊娠合并地中海贫血的产科管理

妊娠合并地中海贫血（thalassemia）是一种发生在妊娠期的单基因组遗传的溶血性疾病。由于血液中血红蛋白的组成比例失衡,妊娠合并地中海贫血患者血液系统发生了改变,可能会影响母体的心脏功能,增加血栓形成风险,损害免疫系统,使内分泌系统紊乱等。以往研究关注妊娠合并地中海贫血的流行病学及发病机制,缺乏对其所带来的并发症的妊娠期管理、遗传咨询及产前诊断的系统性阐述。从病变类型和发病机制入手,深度剖析地中海贫血在妊娠期的特有并发症及相应的处理方式,以期能取得更好的妊娠结局及围生儿结局。     

检测红细胞体积和红细胞分布宽度在妊娠合并缺铁性贫血诊断中的价值

目的：探讨平均红细胞体积（ＭＣＶ）和红细胞分布宽度（ＲＤＷ）检测在妊娠合并缺铁性贫血诊断中的价值。方法：６０５例孕妇在常规产前检查时，同时检测外周血血红蛋白浓度、ＭＣＶ、ＲＤＷ、及空腹血清铁浓度、总铁结合力、运铁蛋白饱和度等指标。按检测结果分为缺铁性贫血组６８例、非缺铁性贫血组５７例、正常对照组４８０例。结果：缺铁性贫血组与对照组及非缺铁性贫血组比较，缺铁性贫血组ＲＤＷ显著上升，而ＭＣＶ显著下降（Ｐ均＜０．０１）；非缺铁性贫血组与对照组比较，ＭＣＶ和ＲＤＷ均未见显著差异（Ｐ均＞０．０５）。结论：ＭＣＶ降低和ＲＤＷ升高为缺铁性贫血的特征性改变。因此认为，ＭＣＶ和ＲＤＷ检测有助于妊娠合并缺铁性贫血的鉴别诊断。     

地中海贫血的筛查

<正>地中海贫血(thalassaemia)是指因珠蛋白基因缺陷(突变、缺失)导致一种或多种珠蛋白肽链合成减少或缺失，引起的一组以珠蛋白生成障碍为特征的血红蛋白(Hb)病，是临床上最常见的单基因遗传病之一。目前，全世界约1.1%的夫妇有生育Hb病患儿的风险，其中每年超过5万例地中海贫血患儿出生^[1],中间型和重型地中海贫血患儿给家庭和社会带来了严重的负担，通过人群基因携带者的筛查、对高危妊娠产前诊断以及选择性流产淘汰重症患儿，     

检测红细胞体积和红细胞分布宽庆妊娠合并缺铁性贫血诊断中的…

探讨平均红细胞胞体积和红细胞分布宽度检测在妊娠合并缺铁性贫血诊断中的价值。方法：６０５例孕妇在常规产前检查时，同时检测外周血血红蛋白浓度、ＭＣＶ、ＲＤＷ、及空腹血清铁浓度、总铁结合力、运铁蛋白饱和度等指标。按检测结果分为缺铁为贫血组６８例、非缺铁性贫血组５７例、正常对照组４８０例。     

Effect of Magnesium Sulfate on the Osmotic Fragility and Lipid Peroxidation of Intact Red Blood Cells from Pregnant Women with Severe Preeclampsia

Objective: To evaluate the osmotic fragility and level of lipid peroxidation of red blood cells from pregnant women with severe preeclampsia, treated or not with MgSO₄. Methods: Osmotic fragility and lipid peroxidation of red blood cells was evaluated in 11 normotensive pregnant women and eleven pregnant women with severe preeclampsia. Results: MgSO₄ therapy, either in vivo or in vitro, leads to a reduction of the osmotic fragility and the level of lipid peroxidation of red blood cells from pregnant women with severe preeclampsia. Conclusions: Interaction of MgSO₄ with free radicals, by avoiding an excessive lipid peroxidation of the red blood cell membrane, would protect the membrane structure, avoiding in this way the increase in osmotic fragility.     

干预改变细胞容积对有核红细胞富集效果的实验研究

目的:通过观察干预脐血细胞K+/Cl-离子转运体(KCC)对细胞调节性容量减少(RVD)的生物学改变,为探讨富集胎儿有核红细胞(NRBC)方法提供线索.方法:流式细胞仪计数观察尿素干预脐血KCC转运体后不同密度介质下离心富集NRBC的效果.结果:在高渗400mmol/L尿素干预10分钟条件下,红细胞体积缩小最大(P<0.01).干预脐血后1.065 g/ml密度介质离心下层红细胞白膜层(未干预下层)NRBC富集量由12.20%升为69.90%,富集增长差异有统计学意义(u=7.96,P<0.05),单个核上层(未干预上层)NRBC由7.15%降为2.00%,减少量差异有统计学意义(u=5.47,P<0.05).结论:尿素干预脐血可以增加有核红细胞富集率,较传统富集法的富集量更高.     

妊娠期糖尿病患者氧化应激和EPO、FNRBC水平变化与胎盘组织学改变的关系

目的:探讨妊娠期糖尿病(GDM)患者氧化应激状态与脐血促红细胞生成素(EPO)和胎儿有核红细胞(FNRBC)水平变化及其与胎盘组织形态学异常发生率的关系。方法:选取28例GDM患者(GDM组)和22例正常妊娠妇女(正常对照组),采集其母血和脐血及对应的胎盘标本,检测母血和脐血氧化应激标志物丙二醛(MDA)、超氧化物歧化酶(SOD)浓度,脐血EPO浓度和FNRBC计数,同时对胎盘组织进行病理学检测。结果:GDM组患者母血和脐血中的MDA及脐血中EPO浓度和FNRBC计数明显高于正常对照组(P<0.05),SOD浓度较正常对照组明显降低(P<0.05)。GDM组患者胎盘病理检查提示,与正常对照组相比:绒毛成熟不良、干绒毛小动脉增厚和绒毛间质毛细血管充盈明显的发生比例增加(P<0.05),并且母血和脐血中的MDA浓度与胎盘绒毛成熟不良的发生比例呈正相关(P均<0.05)。结论:胎盘绒毛发育和成熟的复杂过程可能受母胎氧化应激与抗氧化环境的影响,胎盘病理组织学显示GDM时绒毛血管发育与成熟的异常可能导致胎儿缺氧和不良后果。     

Indication and Efficacy of Autologous Blood Transfusion for Pregnant Women

The usefulness of autologous blood transfusion was evaluated in 91 women undergoing autologous blood reservation based on the amount of blood loss during delivery, and the frequency and amount of reserved autologous blood transfused.

Results:

Although the mean frequency of homologous blood transfusion was 0.87% before the initiation of auto-logous blood reservation, it decreased to 0.41% after the initiation of autologous blood reservation. Among 80 women (87.9%) who underwent autologous blood transfusion, homologous blood transfusion was further required in 5 women (5.5%) due to unexpectedly massive bleeding during delivery. All of these 5 women had a past history of cesarean section due to the presence of placenta previa. Of 24 women with placenta previa who underwent autologous blood reservation (excluding those with a past history of cesarean section), homologous blood transfusion might be required in 13 women (54.2%) due to more than 1500 ml of blood loss during cesarean section, but homologous blood transfusion was avoided in all of these 13 women. Even in women who did not require emergency intraoperative blood transfusion, anemic symptoms were improved by postoperative transfusion of reserved autologous blood without producing any adverse reactions.

Conclusions:

These findings suggest that autologous blood transfusion may decrease the frequency of homologous blood transfusion in women with a possibility of massive bleeding during cesarean section due to the presence of placenta previa, a past history of cesarean section, or uterine leiomyoma developing in the anterior wall. Therefore, further distribution of autologous blood transfusion is needed in the future.     

Home Blood Pressure Levels in Pregnant Women with Chronic Hypertension

Objective: To explore the difference between office and home blood pressure (BP) monitoring in normotensive and hypertensive pregnant women. Methods: We compared the mean of 1 week home BP with office BP, measured by aneroid devices, in 20 normotensive women (68 BP assessments) and 100 women with mild essential chronic hypertension without superimposed gestational hypertension (429 BP assessments). Different approaches were used including the Bland-Altman method to investigate the discrepancies between office and home BP. Results: Systolic office BP in normotensive women (p = 0.004) and diastolic office BP in hypertensive women (p = 0.001) were lower than home BP. The concordance between office and home BPs was better for diastolic BP than for systolic BP. Only a small number of hypertensive women presented home BP ≥135/85 mm Hg. Conclusions: In our study population, the concurrence between office and home BPs is good with the exception of systolic BP in normotensive women. Home blood pressure measurement criteria used in nonpregnant individuals are not adequate in pregnancy.     

正常月经周期妇女和自然流产妇女外周血中树突状细胞亚群的变化

目的:探讨正常月经周期妇女和自然流产妇女外周血中髓样树突状细胞(myeloid dendritic cell,MDC)和浆细胞样树突状细胞(plasmacytoid dendritic cell,PDC)的变化。方法:选择正常月经周期妇女30例,分别在每个妇女月经周期卵泡期和黄体期采集外周血;早期自然流产妇女30例流产后清宫前采集外周血,并以正常早期妊娠妇女为对照组。应用流式细胞术,检测各组外周血单个核细胞中MDC和PDC的百分率及MDC/PDC比率。应用放射免疫法检测各组外周血中雌二醇(E_2)和孕酮(P_4)的水平。结果:正常月经周期黄体期外周血中MDC的百分率和MDC/PDC比率显著低于卵泡期(P<0.01),PDC的百分率黄体期与卵泡期无统计学差异(P>0.05)。正常月经周期妇女黄体期外周血中E_2和P_4水平显著高于卵泡期(P<0.01)。早期自然流产妇女外周血中MDC的百分率和MDC/PDC比率显著高于正常早孕组(P<0.01),而PDC的百分率与正常早孕组无统计学差异(P>0.05)。自然流产组E_2和P_4水平显著低于正常早孕组(P<0.01)。结论:早期自然流产妇女外周血中MDC的百分率和MDC/PDC比率显著升高,可能参与了导致母体对胎儿发生免疫排斥。