余姚地区11848例新生儿G6PD缺乏症筛查结果分析

目的通过对新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的筛查,了解余姚市新生儿G6PD缺乏症的发病情况。方法用荧光斑点法(FST)对2014年出生的新生儿的筛查滤纸干血片进行检测,召回可疑阳性新生儿,抽静脉血以G6PD/6PGD比值法进行确诊。结果 2104年出生新生儿11 848例,初筛新生儿11 776例,筛查率99.39%,发现G6PD缺乏新生儿276例,初筛阳性率2.34%;召回265例,召回率96.01%;确诊G6PD缺乏新生儿42例,确诊阳性率为3.54‰;确诊男性37例,发病率为5.94‰(37/6228),女性5例,发病率0.90‰(5/5548),男女比例7.4:1。结论 G6PD缺乏症筛查是先天性G6PD缺乏症三级预防的重要且有效的方法,继续科学规范管理,通过多途径提高G6PD缺乏症筛查筛查率和召回率。     

34511例新生儿G6PD筛查及遗传咨询调查

目的通过2014~2016年余姚市34 511例新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的筛查及召回确诊分析,了解余姚市新生儿G6PD缺乏症的发病情况。方法应用荧光分析方法对新生儿足跟血干血滤纸片进行初筛,对可疑者进行召回,采集静脉血以(G6PD/6PGD)直接比值法进行确诊。结果三年全市活产新生儿34 645例,共筛查新生儿34 511例,筛查率99.61%;初筛阳性438例,初筛阳性率1.27%;召回426例,召回率97.26%;确诊G6PD缺乏新生儿156例,发病率为0.45%;确诊男性142例,发病率为0.77%(142/18 429),女性14例,发病率0.09%(14/16 082),祖籍均为本地户籍新生儿发病率0.16%(27/16 448),非本地户籍新生儿发病率为0.71%(129/18 063)。结论余姚市虽然不是新生儿G6PD缺乏症高发区,但随着外来人口的不断流入,平均每年有50多例新生儿被筛查确诊,有效地避免了由此导致的急性溶血性贫血发生。并可对患儿家长开展遗传咨询,做好优生优育指导,提高出生人口素质。     

怀化市266408例新生儿G6PD缺乏症筛查结果分析

目的通过对2011-2016年怀化市266 408例新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查结果分析,了解怀化市G6PD缺乏症的发病情况,为新生儿筛查和新生儿溶血性疾病的防治提供依据。方法应用荧光分析法对新生儿筛查干血滤纸片进行初筛,对初筛可疑阳性者召回,抽静脉血以G6PD/6PGD比值法进行确诊。结果 2011-2016年怀化市进行G6PD筛查的新生儿共266 408例,筛查率为74.69%,初筛可疑阳性2912例,召回复查2161例,召回率74.21%;共确诊1050例,总发病率为1/254,其中男性筛查数146 656例,确诊男性923例,男性发病率为1/159,女性筛查数119 752例,确诊女性127例,女性发病率为1/943,男女发病率之比为7.3:1,男性发病率明显高于女性。结论怀化市G6PD缺乏症发病率较广西、海南等地区低,但还是有一定的发病率。开展新生儿G6PD缺乏症的筛查,可对本病进行早期诊断和防治,有利于儿童的健康成长。     

三亚地区新生儿G6PD缺乏症筛查结果分析

目的对三亚地区新生儿葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)缺乏症筛查结果进行分析,以期了解该地区新生儿G6PD缺乏症的现状。方法选取2018年01月～2020年07月在三亚市妇幼保健院出生的户籍为三亚市的新生儿作为研究对象,在其出生72h后采集足底血并应用荧光斑点法测定G6PD活性,且对筛查结果为阳性的患儿,立即召回采静脉血以G6PD/6PGD比值法进一步确诊。结果自2018年01月～2020年07月以来,在三亚市妇幼保健院出生的户籍为三亚市的新生儿共10 216例,实施初筛新生儿10 197例,筛查率99.81%,检出G6PD缺乏新生儿335例,初筛阳性率3.29%;随后召回335例,召回率100.00%;确诊G6PD缺乏新生儿36例,确诊阳性率为3.53‰;确诊男患儿31例,发病率5.52‰(31/5618),女患儿5例,发病率1.09‰(5/4579),男女比例6.2∶1,性别差异有统计学意义(P0.05)。结论三亚地区新生儿G6PD的发病率大约为3.53‰,其中男患儿居多,应加强本地区新生儿、尤其男婴G6PD筛查工作,不仅可早期诊断、早期防治高胆红素血症的发生,且有效避免低智力甚或死亡的发生,提高出生人口素质。     

广西地区G6PD新生儿筛查情况分析

目的通过对2013年-2014年广西地区42 525例新生儿葡萄糖-6-磷酸脱氢酶(G6PD)筛查及召回确诊数据分析,了解广西地区G6PD缺乏情况。方法取出生72h后新生儿足跟末梢血3滴于滤纸血片上,应用荧光法对新生儿进行G6PD缺陷筛查,阳性病例用G6PD/6PGD比值法确诊。结果 42 525例新生儿中,G6PD缺乏人数为3136例,初筛阳性率为7.4%,其中男性为2528例,发病率为10.9%,女性为601例,发病率为3.1%。召回用G6PD/6PGD比值法进行确诊的361例新生儿中,有337例确诊为G6PD缺乏症患儿,并有24例结果转为阴性。结论广西地区是G6PD缺乏的高发地区,男性患者明显多于女性(P0.01)。     

潮州地区2015年新生儿G6PD缺乏症筛查结果分析

目的了解潮州地区新生儿G6PD缺乏症的发生情况。方法对2015年在潮州地区出生的新生儿共26 624例,在其出生72h后采集足跟血制作血滤纸干血片,采用荧光斑点试验测定G6PD活性。初筛阳性新生儿,召回采静脉血进行改良G6PD/6PGD比值法确诊。结果初筛阳性率为3.7%。筛查阳性者确诊检出率为44.0%,其中男性发病率明显高于女性,为5.5:1。结论潮州地区新生儿G6PD缺乏症发病率较高,应对新生儿进行常规筛查,以防治G6PD缺乏而带来的疾病。     

湘潭地区新生儿G6PD缺乏症的筛查结果分析

目的了解葡萄糖6-磷酸脱氢酶（G6PD）缺乏症的发病率。方法应用快速的比色分析法对新生儿筛查滤纸干血片进行检测,对可疑阳性者召回,抽静脉血以G6PD/6PGD比值法进行确诊。结果筛查15 471例新生儿,G6PD缺乏筛查阳性率为3.87‰（60/15471）,G6PD/6PGD比值法确诊检出率为3.61‰（56/15 471）,与比值法的符合率为93.33%。结论比色分析法具有较高的敏感性、特异性和准确性,方法简单、快捷、费用低廉,可对滤纸干血片标本进行大规模的筛查检测,同时利用比值法进行确诊,适宜在高发区开展G6PD缺乏的新生儿筛查和早期诊断及防治工作中应用。湘潭地区男性患者明显多于女性患者。     

江门市新生儿G6PD缺乏症基因频率

目的了解江门市区新生儿G6PD缺乏症基因频率.方法应用G6PD/6PGD比值法.结果 6312名新生儿(其中男婴3309人,女婴3003人)检出G6PD缺乏症305人,其中男婴183人,女婴122人,G6PD缺乏症基因频率为0.0553.结论江门市新生儿G6PD缺乏症发生率较高,应在新生儿进行常规筛查,以预防因G6PD缺乏而带来一系列疾病.     

昆明地区孕妇夫妇G6PD缺乏症的筛查研究

本文采用G6PD/ 6PGD比值法 ,对 1998年 9月～ 2 0 0 1年 8月来我院门诊就诊的 16 97对孕妇夫妇 (共 3394例 )进行G6PD缺乏症筛查。结果表明 :男性G6PD缺乏症发生率为 3 48% ,女性发生率为 5 30 % ,从而得出昆明地区G6PD缺乏症的基因频率为 0 0 34 8。昆明作为此症的高发地区 ,广泛开展孕妇夫妇G6PD缺乏症筛查工作可使临床医生对缺乏症患者进行必要的处理 ,并帮助她们提高防患意识 ,以避免受到氧化物质的损害 ,从而提高优生优育水平。同时 ,本研究表明 ,G6PD/ 6PGD比值法能较为有效地检出女性杂合子 ,建议广泛应用于临床检测。     

宁夏银川回族G6PD缺乏症发生率及突变谱研究

目的了解宁夏银川地区回族葡萄糖6磷酸脱氢酶缺乏症(G6PD deficiency)的发生率及基因突变类型。方法在2012年10月至2013年5月,用荧光斑点法对1041例成年回族进行G6PD酶学筛查;用PCR-反向斑点杂交芯片(PCRRDB)和PCR-DNA测序法鉴定酶学筛查缺陷样本的突变型。结果回族人群的G6PD缺乏症的发病率为0.58%(6/1041),其中女性4例(0.39%,4/650),男性2例(0.19%,2/391)。G6PD缺乏症是世界上最为普遍的单基因遗传病之一,男女检出比率为1:2(2/4)。在6例G6PD缺乏症者中5例为单一突变,1例为复合突变。有6种突变被检出,分别为c.392 GT、c.1024 CT、c.1311 CT、c.1360 CT、c.1376 GT、c.1388 GA。结论宁夏地区回族人群G6PD缺乏症发生率较低。c.392 GT和c.1311 CT为回族G6PD缺乏症主要的基因型。     

2008年～2012年茂名地区新生儿遗传代谢病筛查结果分析

目的总结分析茂名市地区2008～2012年问新生儿先天性甲状腺功能减低症（CH）、苯丙酮尿症（PKU）和葡萄糖-6-磷酸脱氢酶（G-6PD）缺乏症3种新生儿先天性疾病和遗传病的筛查结果,总结新生儿遗传代谢病筛查的工作进展以及发病情况。方法采用干滤纸片法对全血中的促甲状腺素、苯丙氨酸和G6PD活性进行测定。结果5年以来共筛查344763份新生儿血样本,检出CH、PKU和G-6PD缺乏症患儿各202例、2例和25558例,发病率分别为1／1706、1／172381和7．41％,CH的发病率明显高于全国1／3009的发病率,G6PD缺乏症的发生率也明显高于全国0．69％的发生率．PKU的发病率则明显低于全国1／11144的发病率。结论育的损害。加强新生儿遗传代谢病筛查工作是控制出生缺陷、通过新生儿遗传代谢病筛查可避免其对新生儿智能和体格发提高出生人口素质的重要措施。     

G6PD／6PGD定量比值法检测新生儿女性杂合子的临床分析

目的探讨G6PD／6PGD定量比值法检测女性杂合子的临床意义。方法使用G6PD／6PGD定量比值法对广西医科大学第四附属医院2005年1月至2008年1月出生的4124名新生儿的脐血进行G6PD缺乏症检测。结果女性杂合子检出率占估计值18．09％。结论G6PD／6PGD定量比值法在检测女性杂合子中的实际检出率低，容易造成大部分杂合子女性漏诊，对一级亲属中有G6PD缺乏者的高危女性应提高其防范意识，减少G6PD缺乏症对新生儿的危害。     

地中海贫血和G6PD缺乏联合检测在婚前检查中的价值

目的探讨地中海贫血和G6PD缺乏联合检测在婚前检查中的发病率,并指导优生优育。方法应用地中海贫血一管筛查法和G6PD比值法检测4268对婚前男女的地中海贫血和G6PD缺乏。结果4268例男性受检者中,地中海贫血者为239例,G6PD缺乏者为154例,检出率分别为5.6%和3.6%;4268例女性受检者中,地中海贫血者为248例,G6PD缺乏者为136例,检出率分别为5.8%和3.2%。结论地中海贫血和G6PD缺乏在婚前检查中有较高的发病率,在婚前进行地中海贫血和G6PD缺乏的筛查,并进行优生优育的科学指导,是避免新生儿溶血的有效途径。     

柳州市婚前体检人群红细胞G6PD缺陷的基因频率调查

本调查采用改良G6PD荧光斑点试验作定性初筛，G6PD／6PGD比值法作定量确诊，对1995年5月至10月在本市定点婚检单位柳州市妇幼保健院进行婚前体检的育龄人员3076人进行红细胞G6PD缺陷调查，总检出率为7．74％，男性检出率为7．15％，女性检出率为8．32％，G6PD缺陷基困频率为0．0715。结果表明在本市婚检育龄人群中开展G6PD缺陷筛查对优生优育具重要意义。     

High prevalence of G6PD deficiency in Vataliya Prajapati community in western India

OBJECTIVE: Sporadic cases of drug-induced haemolytic anaemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients belonging to Vataliya Prajapati community prompted us to study the prevalence of G6PD deficiency in the community. METHODS: Screening for G6PD deficiency was carried out using the dichlorophenol-indophenol (DPIP) dye decolorization method. RESULTS: A total of 471 individuals were screened. Of these, 385 unrelated individuals were considered to calculate the prevalence of G6PD deficiency. Among 272 unrelated males, 76 persons (27.94%) and among 113 unrelated females, 11 individuals (9.73%) were found to be G6PD deficient. A quantitative assay on 41 of the G6PD deficient samples showed the enzyme activity ranged from 0-0.5 unit/ml RBC/min. CONCLUSION: The prevalence of G6PD deficiency in Vataliya Prajapatis community was found to be the highest ever reported in the Indian caste-groups population studied so far.     

ABO血型不合溶血病合并G-6-PD缺陷症新生儿高胆11例报告

目的研究ABO血型不合溶血病合并葡萄糖-6-磷酸脱氢酶（G-6-PD）缺陷症的新生儿高胆红素血症（简称高胆）的发病特点。方法选择2007年1月至2010年12月收治母婴ABO血型不合新生儿溶血病合并G-6-PD缺陷症11例（A组）与同期单纯ABO血型不合溶血病80例（B组）新生儿高胆进行分析。结果①91例母婴ABO血型不合溶血病的新生儿中合并G-6-PD缺陷症11例（12.1%）。②新生儿高胆发病日龄：两组均以1～2 d为主（A组9例占81.82%,B组67例占83.75%）;高峰日龄：两组均以2～3d为主（A组9例占81.82%,B组73例占91.25%）;消退时间：两组均在〈6天内。发病日龄、高峰日龄、消退时间经统计学分析各组之间均无显著差异（P〉0.05）。③新生儿贫血程度：两组之间中度贫血无显著差异（P〉0.05）,但轻度贫血及血红蛋白正常者组,经统计学分析差异极显著（P〈0.01）。结论 11例母婴ABO血型不合溶血病合并G-6-PD缺陷症新生儿：①母婴ABO血型不合溶血病中合并有G-6-PD缺陷症的几率为12.1%。②高疸发病日龄基本在1～2d内,高峰日龄基本在2～3d内,消退时间均在〈6天内,与单纯ABO血型不合溶血病基本相同。③新生儿轻度贫血较单纯ABO血型不合溶血病明显,表明溶血会加重,但只要早期诊断、早期干预,预后良好。     

Diversity in expression of glucose-6-phosphate dehydrogenase deficiency in females

The aims of this study were to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the United Arab Emirates (UAE), to describe the different mutations in the population, to determine its prevalence, and to study inheritance patterns in families of G6PD-deficient individuals. All infants born at Tawam Hospital, Al-Ain, UAE from January 1994 to September 1996 were screened at birth for their G6PD status. In addition, those attending well-baby clinics during the period were also screened for the disorder. Families of 40 known G6PD-deficient individuals, selected randomly from the records of three hospitals in the country, were assessed for G6PD deficiency. Where appropriate, this was followed by definition of G6PD mutations. Of 8198 infants, 746 (9.1%), comprising 15% of males and 5% of females tested, were found to be G6PD deficient. A total of 27 families were further assessed: of these, all but one family had the nt563 Mediterranean mutation. In one family, two individuals had the nt202 African mutation. The high manifestation of G6PD deficiency in women may be due to the preferential expression of the G6PD-deficient gene and X-inactivation of the normal gene, and/or to the presence of an 'enhancer' gene that makes the expression of the G6PD deficiency more likely. The high level of consanguinity which, theoretically, should result in a high proportion of homozygotes and consequently a higher proportion of females with the deficiency, was not found to be a significant factor.     

Glucose-6-phosphate dehydrogenase deficiency and malaria

 Glucose-6-phosphate dehydrogenase (G6PD) is a cytoplasmic enzyme that is essential for a cell’s capacity to withstand oxidant stress. G6PD deficiency is the commonest enzymopathy of humans, affecting over 400 million persons worldwide. The geographical correlation of its distribution with the historical endemicity of malaria suggests that 66PD deficiency has risen in frequency through natural selection by malaria. This is supported by data from in vitro studies that demonstrate impaired growth of P. falciparum parasites in G6PD-deficient erythrocytes. Attempts to confirm that G6PD deficiency is protective in field studies of malaria have yielded conflicting results, but recent results from large case control studies conducted in East and West Africa provide strong evidence that the most common African G6PD deficiency variant, G6PD A^–, is associated with a significant reduction in the risk of severe malaria for both G6PD female heterozygotes and male hemizygotes. The effect of female homozygotes on severe malaria remains unclear but can probably be assumed to be similar to that of comparably deficient male hemizygotes. Received: 14 October 1996 / Accepted: 13 October 1997     

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017

Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is one of the most common X‐linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity‐confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities.     

1600例早孕夫妇红细胞G6PD检测分析

本文采用Ｇ６ＰＤ荧光斑点试验作定性初筛，Ｇ６ＰＤ／６ＰＧＤ比值法作定量确诊。从１９９６ 年９ 月至１９９８ 年６ 月对珠海地区１６００ 例早孕夫妇进行了红细胞Ｇ６ＰＤ检测。查出不同程度缺乏者７６ 人，检出率为４－７５ ％ 。其中夫妇双方均缺乏者１２ 对，占３１－５８％ ，而且珠海籍的人群发生率最高（８－０９％ ），其它广东籍人群次之（７－７６％ ），非广东籍人群最低（２－１８％ ）。结果表明在该市婚前体格和早孕建卡期开展Ｇ６ＰＤ缺乏症的筛查工作是非常重要的。同时加强孕期保健宣教和指导，提高携带者的防患意识，避免受到氧化性物质的损害，对优生优育同样具有重要意义。