1128例幼儿葡萄糖-6-磷酸脱氢酶筛查结果分析

目的了解盐田区幼儿园儿童葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率。方法采用G6PD/6PGD定量比值法测定G6PD活性,筛查盐田区幼儿园1 128例儿童的G6PD缺乏症发生情况。结果 1 128例儿童中,共筛查出G6PD缺乏症患儿56例,发生率为4.96%。其中男性发生率(6.47%)明显高于女性的发生率(3.50%),差异有统计学意义(P0.05);男性患儿中,重度缺乏的发生率(5.21%)高于中度缺乏的发生率(1.26%),女性患儿中,中度缺乏的发生率(2.28%)高于重度缺乏的发生率(1.22%),差异均具有统计学意义(P0.05)。结论盐田区属G6PD缺乏症的高发地区,应加强人群的筛查,早期发现和诊断G6PD缺乏症对防治该病引起的溶血具有重要意义。     

广州花都地区育龄夫妇及新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

目的了解广州花都地区育龄夫妇及新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病情况。方法对2013年4月1日至2015年4月30日在该院做孕前检查的夫妇及在该院新生儿科出生的新生儿的G6PD检测结果进行回顾性统计分析。将成人G6PD1 300U/L分为轻度缺乏组,G6PD500U/L分为重度缺乏组;将新生儿G6PD2 500U/L分为轻度缺乏组,G6PD1 000U/L分为重度缺乏组。结果在该院育龄夫妇G6PD筛查中,G6PD缺乏的总检出率为6.07%,其中男性缺乏的检出率为5.92%(57/963),重度检出率为4.67%(45/963);女性缺乏检出率为6.16%(102/1 657),重度检出率1.21%(20/1 657);该院新生儿G6PD筛查中,G6PD缺乏的总检出率为13.01%(131/1 005),其中男性缺乏的检出率为12.63%(71/562),重度检出率为9.79%(55/562);女性缺乏的检出率为13.54%(60/443),重度检出率为1.35%(6/443)。结论广州花都地区为G6PD缺乏病的高发地区,女性的G6PD缺乏的检出率高于男性,但男性重度缺乏的检出率高于女性。     

我国葡萄糖-6-磷酸脱氢酶缺乏症研究40年的回顾和展望

葡萄糖 6 磷酸脱氢酶 (ｇｌｕｃｏｓｅ 6 ｐｈｏｓｐｈａｔｅｄｅｈｙｄｒｏｇｅｎａｓｅ ,Ｇ6ＰＤ)缺乏症的研究 ,从首批蚕豆病病例报告算起 ,足足研究了 4 0年。　　Ｇ6ＰＤ缺乏症的研究还得从蚕豆病的发现谈起。　　自 1952年四川杜顺德报告 12例蚕豆病后 ,我国西南和华南各地相继有蚕豆病的病例报告。系统的研究源于广东东部地区出现蚕豆病的爆发流行 ,月内有上千人罹患此病。在四川简阳地区也发现较多病例。这一时期研究的主要成绩是摸清了蚕豆病的发病和流行规律 ;提出并证实蚕豆花粉不能致病 ;探讨了一套有效的治疗方案 ,将病死率…     

1例新生儿红细胞葡萄糖-6-磷酸脱氢酶缺乏症致高胆红素血症的护理

正红细胞葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症是一种遗传性酶缺乏病,多见于9岁以内儿童,以男孩多见,发病率为0.2%~44.8%~([1])。G6PD缺乏症因G6PD基因突变导致红细胞破坏,常有溶血性贫血、黄疸和肝脾肿大等临床表现。G6PD缺乏症在新生儿期发病,病情多凶险且进展迅速,易引起核黄疸,是新生儿急症之一~([2]),其所致胆红素脑病发生率较AB0溶血病高2~3倍~([3]),且可在血清胆红素     

临沂市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

葡萄糖6磷酸脱氢酶（G6PD）缺乏症是一种X连锁不完全显性遗传病,患儿红细胞G6PD活性低下,平时不出现症状,在某些诱因作用下,如进食蚕豆或其制品、使用伯氨喹啉型（氧化型）药物、使用樟脑丸、感染病菌等时,可发生血管内溶血,出现黄疸、贫血、血红蛋白尿、肝脾肿大等。新生儿早期在某些围产因素作用下,常并发新生儿高胆红素血症,严重者形成胆红素脑病导致智力低下等后遗症,甚至死亡。     

漫谈“蚕豆病”和“葡萄糖—6—磷酸脱氢酶缺乏症”

１引言人们常说,某人患了或曾患过“蚕豆病”,将“蚕豆病”当成“葡萄糖－６－磷酸脱氢酶缺乏症（G６PD）”的代名词。这反映了人们对这两个概念还没有完全理解,同时也反映此病的中文全称太长、英文名不好读的缺点。因而通称为“蚕豆病”也情有可原。其实,两者正确的相互关系是G６PD缺乏症是“蚕豆病”发生的遗传基础（或遗传背景）;有这种遗传背景的人,不仅可以患上“蚕豆病”,而且还可以患其他溶血疾病,如多种药物引起的溶血、新生儿黄疸、某些感染性疾病引起的溶血（如肝炎、肺炎、伤寒、流感、腮腺炎）等。其中,新生儿黄疸…     

新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查与分析

目的通过对新生儿葡萄糖-6-磷酸脱氢酶（glucose-6-phosphate dehydrogenase,G-6-PD）缺乏症的筛查及临床分析,了解桂平市新生儿G-6-PD缺乏情况及G-6-PD缺乏幼儿与高胆红素血症的相关性。方法对2010年7月至2011年7月在该院出生的3 402例新生儿进行G-6-PD测定,统计分析G-6-PD缺乏情况,并跟踪回访新生儿至出生后第10天,如果出现黄疸应立即采血测定胆红素,对新生儿高胆红素血症的发生率进行比较分析。结果新生儿G-6-PD缺乏症发病率为10.35%（352/3 402）,男婴G-6-PD缺乏率为14.28%（264/1 849）;女婴G-6-PD缺乏率为5.66%（88/1 553）。G-6-PD缺乏幼儿高胆红素血症的发生率为25.3%,明显高于G-6-PD正常新生儿的2.6%（P〈0.01）。结论广西桂平市是G-6-PD缺乏症的高发区,对G-6-PD缺乏症的筛查非常有意义,能有效提示医生谨慎用药和指导患儿避免接触诱因,预防溶血的发生,提高该地区人群的健康素质。     

梧州市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

目的 了解梧州市新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的筛查情况,为患该病新生儿的防治提供参考依据.方法 采用G6PD定量(连续监测速率法)对3 235例新生儿G6PD活性进行检测,并对筛查结果进行分析.结果 所有被检测的新生儿中G6PD缺乏症的发病率是10.88%,其中男性的发病率为12.21%,女性的发病率为9.33%.结论 梧州市作为G6PD缺乏症的高发区,应常规开展新生儿葡萄糖-6-磷酸脱氢酶缺乏症的筛查工作,对G6PD缺乏症患者及时采取预防性措施,避免因出现核黄疸而造成的智力低下或死亡等后果,确保新生儿的生命质量,从而提高优生优育的水平.     

用等位基因特异聚合酶链反应检测葡萄糖-6-磷酸脱氢酶基因突变

葡萄糖 6 磷酸脱氢酶 (Ｇ6ＰＤ)缺乏症是中国南方人群中一种常见的遗传病之一 ,与药物性溶血、感染性溶血及新生儿高胆红素血症等有密切的关系。引起Ｇ6ＰＤ缺乏症的主要原因是Ｇ6ＰＤ基因点突变[1] 。现已发现引起中国人Ｇ6ＰＤ缺乏症的突变主要是 1376Ｇ→Ｔ、1388Ｇ→Ａ、95Ａ→Ｇ、392Ｇ→Ｔ、5 92Ｃ→Ｔ及 10 2 4Ｃ→Ｔ等六种突变[2 5] 。以往检测这些已知的突变 ,主要用错配扩增酶切法、等位基因寡核苷酸探针杂交等方法[2 5] 。最近 ,杜传书等[6] 报道用突变特异性扩增系统(ａｍｐｌｉｆｉｃａｔｉｏｎｒｅｆｒａｃｔｏｒｙｍｕｔ…     

G6PD/PK ratio: a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects

OBJECTIVES: To determine if measuring the ratio of glucose-6-phosphate dehydrogenase (G6PD) to pyruvate kinase (PK) is more reliable than only measuring G6PD activity to identify heterozygous G6PD- individuals with associated microcytic anemia in the Calabrian population, which shows high frequencies of both the thalassaemia (thal) trait and G6PD deficiency. DESIGN AND METHODS: Measurement of G6PD and PK activities was carried out on 205 samples of whole blood from Calabrian subjects of both sexes (age range 10-50 years) using a double starter differential pH-metry technique. RESULTS: The G6PD/PK ratio is able to differentiate G6PD- heterozygous individuals from the normal population. G6PD/PK values also allowed us to easily identify the G6PD- heterozygous subjects with microcytic anaemia. Student's t test shows that G6PD/PK ratio is more reliable in both sample groups, relative to G6PD activity in normal subjects. CONCLUSIONS: G6PD/PK ratio is a reliable diagnostic parameter for mass screening for G6PD deficiency.     

Prevalence of glucose-6-phosphate dehydrogenase deficiency and diagnostic challenges in 1500 immigrants in Denmark examined for haemoglobinopathies

Abstract

Similar to the thalassaemia syndromes, glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in areas historically exposed to malaria. In the present study, we used quantitative and molecular methods to determine the prevalence of G6PD deficiency in a population of 1508 immigrants in Denmark. We found the allele frequency to be between 2.4 and 2.9% in the female immigrants. Furthermore, the mutation pattern in the studied population showed a high prevalence of the G6PD A-^202A variant in African and African-American immigrants, a high prevalence of the G6PD Mediterranean variant in Mediterranean European and Western Asian immigrants, and substantial heterogeneity in the variants found in the Eastern Asian/Pacific immigrants. Inasmuch as many of the patients included in this investigation had various thalassaemic syndromes, we were able to evaluate the effects of the interaction between a low mean corpuscular haemoglobin (MCH) value and G6PD activity, particularly in heterozygous females. The activity level was markedly influenced by the MCH value in females with normal G6PD activity, but not in heterozygous and homozygous females. Comparison of patients with normal G6PD activity and heterozygous females indicated considerable overlap in activity levels. To help separating heterozygous females from females with wild-type genes, a DNA analysis is necessary when the female activity level is between 4.0 and 4.9 U/g hgb corresponding to 50–60% of the median activity of unaffected males.     

Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene

In this study, we investigated whether glucose-6-phosphate dehydrogenase (G6PD) promoter mutations are responsible for G6PD deficiency. We analysed the G6PD proximal promoter and the 5' untranslated region (UTR) in 65 G6PD-deficient individuals, in which no mutations have been found in the G6PD gene coding sequences, using a nonradioactive polymerase chain reaction/single-strand conformation polymorphism (PCR/SSCP) analysis. We identified no sequence variations in the G6PD core promoter or in the 5' UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus.     

Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency

We report a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate dehydrogenase (G6PD) activity. A novel genetic mutation (G130A) in the third exon was found. We named this novel mutation the "G6PD RIGNANO variant". These findings may contribute to a better knowledge of molecular epidemiology of the G6PD mutation and may represent an additional variant to be studied for a deep comprehension of in vivo compensation mechanisms of G6PD deficiency.     

佛山地区孕产妇G6PD基因缺陷调查及干预模式研究

目的调查佛山地区孕产妇葡萄糖-6-磷酸脱氢酶(G6PD)缺陷状况,探讨干预指导模式的效果。方法选择2013年4~12月到该院产检的孕产妇及其丈夫各1 646例,以反向膜杂交法检查夫妇双方的G6PD基因、以生化仪法检测G6PD活性,分析两性基因突变率、酶活性缺陷率,给予遗传咨询指导并跟踪随访新生儿G6PD基因突变与酶活性低下情况。结果 G6PD基因突变率男性4.7%,女性2.3%;G6PD酶活性缺陷率男性3.5%,女性1.6%;G6PD基因突变发生较高的位点是G1376T(36.2%)、G1388A(21.6%)、A95G(13.7%)和G1024T(11.2%)。结论佛山地区是G6PD缺陷高发地区,G1376T、G1388A、A95G和G1024T是主要的点突变类型。     

深圳盐田地区G6PD缺乏症发病率与基因突变调查

目的了解深圳盐田区G6PD缺乏症的流行现状、基因突变谱,探讨其诊断方法及流程。方法采用G6PD／6PGD定量比值法检测G6PD酶活性,反向点杂交及DNA测序检测G6PD基因突变。结果该区G6PD基因突变人群携带率为4．50％,基因突变以C．1388G〉A、c．1376G〉T和c．95A〉G为主。结论该区为包含其他罕见或少见突变类型的复杂G6PD基因突变谱,基于G6PD酶活性的表型筛查有明显的漏检率,基因检测结合表型筛查可大大提高诊断准确性与可靠性。     

葡萄糖-6-磷酸脱氢酶缺乏时红细胞膜带3蛋白酪氨酸磷酸化的改变

目的：从红细胞膜蛋白磷酸化改变的角度探讨葡萄糖－6－磷酸脱氢酶（G6PD）缺乏症溶血的机制。方法：Western blot法检测G6PD缺乏症的红细胞膜蛋白磷酸化的改变以及二硫苏糖醇（DTT）对蛋白磷酸化的影响；以对硝基苯磷酸（PNPP）为底物，测磷酸酪氨酸磷酸酶（PTPs)活性以探讨磷酸化改变的可能成因。结果：G6PD缺乏的红细胞膜带3（Band 3)蛋白酪氨酸的磷酸化水平较正常对照明显增多，而PTPs活性检测较正常对照组明显减弱；DTT处理的G6PD缺乏红细胞，其膜Band 3蛋白酪氨酸的磷酸化与未处理者无明显差异，PTPs活性检测结果与未处理者亦无显著差异。结论：氧化致使G6PD缺乏红细胞的PTPs活性减弱，膜Band 3蛋白酪氨酸磷酸化增强，成为红细胞溶血的一个重要原因。但PTPs巯基的改变并不是影响PTPs活性的唯一因素。