乌鲁木齐地区4784例新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查结果分析

目的通过对乌鲁木齐市妇幼保健院新生儿的葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症筛查结果进行分析,了解乌鲁木齐市新生儿发病情况,并为该病在本地区的防治提供参考依据。方法以2017年6月至2018年2月在乌鲁木齐市妇幼保健院所有出生的新生儿为对象,在出生72h,充分母乳后采集足跟血制成干血斑,检测G-6-PD活性。初筛结果阳性者及时召回,二次复查值仍然阳性者进一步基因诊断确诊并给予预防措施。结果共筛查新生儿4784例,筛查率达99.70%;可疑阳性召回率为97.14%;共检出G-6-PD缺乏症4例;该病发生率为1:1196。结论开展新生儿葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症筛查工作,对患儿的健康成长、减轻家庭痛苦和经济负担、提高人口素质有非常重要的意义。     

玉林市9386名新生儿疾病筛查结果分析

目的了解玉林市新生CH、PKU、G-6-PD缺乏症的的发病率及筛查率。方法CH筛查指标为血促甲状腺素(TSH),实验方法用酶联免疫法(ELISA);PKU筛查指标为血苯丙氨酸,实验方法用细菌抑制法(Guthrie);G-6-PD缺乏症筛查用G6PD/6PGD比值法结果CH发病率为1:1564;PKU未检出;G-6-PD缺乏症发病率为5.82%。结论开展新生儿疾病筛查可早发现CH、PKU及G-6-PD缺乏症,是提高出生人口素质的重要措施,应推广新生儿疾病筛查,提高普查率。     

玉林市9386名新生儿疾病筛查结果分格

目的 了解玉林市新生CH、PKU、G-6-PD缺乏症的的发病率及筛查率.方法 CH筛查指标为血促甲状腺素(TSH),实验方法用酶联免疫法(ELISA);PKU筛查指标为血苯丙氨酸,实验方法用细菌抑制法(Guthrie); G-6-PD缺乏症筛查用G6PD/6PGD比值法 结果 CH发病率为11564;PKU未检出;G-6-PD缺乏症发病率为5.82%. 结论 开展新生儿疾病筛查可早发现CH、PKU及G-6-PD缺乏症,是提高出生人口素质的重要措施,应推广新生儿疾病筛查,提高普查率.     

广州东山区地中海贫血和G6PD缺乏症的调查

目的了解地中海贫血(地贫),G-6-PD缺陷症的流行现状,以加强预防、保健.方法对1998～2000年广州东山区孕检、婚检资料,依据规范处理程序和要求进行分析评价,采用X2检验比较不同的年份、人群间的差异.结果受查人群地贫率为4.4%,G-6-PD缺陷率为3.1%,较广东其他地区低.结论实行筛查可收到一定效果,能及时掌握人群地贫率和G-6-PD缺陷情况,有效地降低了儿童地贫率、G-6-PD缺陷发生率.     

潮州地区近5年新生儿疾病筛查结果分析

目的分析和总结2009年1月-2003年12月潮州市新生儿疾病筛查情况。方法采集出生72h后、充分哺乳的新生儿足跟血制成滤纸干血片,采用时间分辨免疫荧光分析法、免疫荧光分析法等技术,筛查先天性甲状腺功能减退症(CH)、葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症、苯丙酮尿症(PKU)等代谢缺陷病。筛查结果阳性者及时召回,以血清标本复查确诊。结果 2009年1月-2003年12月潮州市新生儿疾病筛查中心共筛查新生儿80 174例,共检出阳性数4469例,其中CH 58例,G-6-PD缺乏症4409例,PKU 2例。结论新生儿疾病筛查可以早期发现CH、G-6-PD缺乏症、PKU患儿,加强培训和提高患者家属认识能有效提高筛查率和召回率,早诊早治,有效防止体格和智力障碍的发生,具有很好的社会效益和经济效益。     

深圳市龙岗区育龄人群地中海贫血筛查干预模式的探究

目的探讨育龄人群地中海贫血筛查干预新模式.方法利用日趋完善、初具技术水平规模和具备优生咨询及群体筛查等技术实力的计划生育服务网络,对龙岗区十个镇育龄人群地中海贫血筛查干预,建立一个大面积人群筛查-高风险夫妇产前诊断-医学建议-选择性流(引)产体系,并发挥其正常功能.结果干预后育龄人群对有关地贫知识及基线答对率(82±3.6)%比干预前(40±6.5)%有显著提高(P＜0.01).结论探讨目前既经济又有效的育龄人群地中海贫血筛查干预模式,降低龙岗区地中海贫血(尤其是重症地贫)患儿的发生率,提高出生人口素质显得十分必要.     

云浮地区2183例新生儿G-6-PD缺乏症的结果分析

目的 探讨云浮地区新生儿葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症的患病情况。方法 采用G-6-PD/6-PGD定量比值测定法检测2 183例新生儿的红细胞G-6-PD活性。结果 本地区总患病率为7.19%（157/2183）,其中男性患病率为10.4%,女性为2.89%。结论 本地区为新生儿G-6-PD缺乏症的高发区,男性患者明显高于女性。     

东莞地区672例地中海贫血高危孕妇的产前诊断

目的分析东莞市孕妇中开展地中海贫血产前筛查和产前诊断的结果和意义。方法对2016年1月至2017年12月在我市产检的孕妇采用血常规、血红蛋白电泳进行地中海贫血筛查,筛查阳性者采用跨越断裂点PCR(Gap-PCR)、PCR结合反向点杂交(RDB)技术进行地中海贫血基因检测。夫妇携带同类型地中海贫血者在孕11-13+6w经腹抽取绒毛或孕17-25w羊膜腔穿刺术进行地中海贫血基因诊断。结果筛查出同型地贫高危夫妇672对,其中α地中海贫血夫妇497对,同型β地中海贫血夫妇175对。672对高风险夫妇均接受了介入性产前地中海贫血基因诊断,检出重度α地中海贫血94例,中间型α地中海贫血46例,中重度β地中海贫血31例。结论东莞地区是地中海贫血高发区,通过孕妇地中海贫血筛查与产前诊断,尽早确诊中重度地中海贫血胎儿及干预,对降低出生缺陷率,提高人口素质有重要意义。     

广州东山区地中海贫血和G6PD缺乏症的调查

目的　了解地中海贫血 (地贫 ) ,G - 6 -PD缺陷症的流行现状 ,以加强预防、保健 .方法　对 1998～ 2 0 0 0年广州东山区孕检、婚检资料 ,依据规范处理程序和要求进行分析评价 ,采用X2检验比较不同的年份、人群间的差异 .结果　受查人群地贫率为 4 .4 % ,G - 6 -PD缺陷率为 3.1% ,较广东其他地区低 .结论　实行筛查可收到一定效果 ,能及时掌握人群地贫率和G - 6 -PD缺陷情况 ,有效地降低了儿童地贫率、G - 6 -PD缺陷发生率 .     

江门地区葡萄糖-6-磷酸脱氢酶缺乏症患者子女患病情况的调查

目的对江门地区葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症患者子女患病情况进行调查,为临床提供参考。方法用G6PD/6PGD比值法对G-6-PD缺乏症患者及其子女红细胞G-6-PD活性进行追踪检测。结果夫妻一方或双方患病共1123例,总共生儿子568人,患病109人,患病率19.2%;生女儿555人,患病153人,患病率27.6%。结论男性半合子和女性纯合子患者会表现出红细胞G-6-PD重度缺乏,而女性杂合子大多数表现与正常人无异,但会把患病基因传给儿子,使儿子成为半合子而表现出G-6-PD缺乏。     

Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa

Background: Hematogenetic disorders are commonly encountered in Orissa state in Central-Eastern India. Hemoglobinopathies and G-6-PD deficiency are the most frequently occurring hereditary hemolytic disorders causing high morbidity and mortality in vulnerable people. Aims: There is no study available reporting combined condition of hemoglobinopathies and G-6-PD deficiency in a single individual from India. This study aims to assess the coincidence of G-6-PD enzyme deficiency with different hemoglobinopathies and beta-thalassemia and to evaluate the influence of combined conditions on the hematological expression. Settings and Design: The study was carried out in rural Orissa with a random sampling procedure. Materials and Methods: Following the standard methodology and techniques, this study highlights 29 tribal cases of compound occurrence of hemoglobinopathy with G-6-PD deficiency in a randomly conducted study in Sundargarh district of Orissa. Statistical Analysis: Results were subjected to statistical analysis. Results: Both female heterozygotes and homozygotes of G-6-PD deficiency in association with different hemoglobinopathies showed reduced values of hematological indices: hemoglobin level, MCV, MCH, MCHC and RBC in comparison to normals. Red cell indices were found further reduced in male G-6-PD deficiency concurrence with hemoglobinopathies in homozygous condition, i.e. sickle cell disease (HbSS) or hemoglobin E disease (HbEE). Hematological indices were significantly lower except WBC counts and fetal hemoglobin in male G-6-PD deficiency with co-existing homozygous sickle cell disease in comparison with counterpart sickle cell trait and normal controls. Conclusions: Hemoglobin polymorphism with G-6-PD deficiency is advantageous to the community against lethal effects of malaria especially against Plasmodium falciparum at population level, but their combination is harmful at the individual level because of low levels of red cell indices to cope with the routine human physiology.     

1281例G-6-PD缺乏新生儿高胆红素血症的调查分析

目的 了解G-6-PD缺乏的新生儿高胆红素血症的发病情况，为临床防治新生儿高胆红素血症提供科学依据。方法 使用高铁血红蛋白还原试验做G-6-PD筛查，阳性者用G6PD／6PGD比值定量法进行确诊。使用重氮法测定总胆红素和直接胆红素。结果 1281例G-6-PD缺乏的新生儿高胆红素患者172例，发病率为13．4％，显著高于对照组（X^2=98，P〈0．005）；其中显著缺乏组发病率为21．2％，显著高于中间缺乏组（X^2=61．6，P〈0．005）；男性发病率为18．8％，显著高于女性（X^2=35，P〈O．005）。结论 G-6-PD缺乏是新生儿高胆红素血症的重要原因。     

影响干血片法筛查新生儿四种病因素的初步探究

目的探讨影响干血片法筛查新生儿四种病（甲状腺功能低下症、苯丙酮尿症、肾上腺皮质增生症和葡萄糖-6-磷酸脱氢酶缺乏症）结果的因素。方法采用时间分辨荧光免疫分析、流式荧光检测方法,分别检测干血片中促甲状腺素（TSH）、苯丙氨酸（Phe）、葡萄糖-6-磷酸脱氢酶（G-6-PD）、17-α羟孕酮（17-OHP）的含量。结果 TSH筛查结果受季节性变化影响比较显著;室温自然晾干的血片储存于4℃冷藏环境中有助于TSH的稳定,30天后测定其TSH含量仍能达到新鲜测定值的93%。采血时间对Phe的测定有显著影响,新生儿出生72h以后采血可明显降低筛查假阳性率比例。另一方面,标本采集后的检测时间是影响G-6-PD测定值的最重要因素。最后,17-α羟孕酮的测定结果与胎儿孕周以及出生后采血时间有着密切关系。结论胎儿孕周、标本采血时间及保存条件等因素均会对干血片法筛查新生儿四种病的筛查结果产生显著影响。新生儿疾病筛查实验条件的优化能够减少筛查中假阳性率的出现,降低召回率,保证筛查质量。     

Fertility and malaria in Sardinia

Using data from the 1961 Italian census, the study of fertility in Sardinia when malaria was endemic shows differential fertility between women living in areas with differing degrees of malaria. Cultural factors measured by women's level of education are negatively correlated with fertility, just as the 'urban' character of the area in which the women lived has a lowering effect on the fertility rate. The hypothesis of differential mortality according to social class, affecting lower-class women and in particular the more prolific among them, seems to be supported by data analysed through time. The subdivision of Sardinian towns and villages into those with a 'low' and a 'high' malaria rate was made on the basis of the classification given by Fermi in a period corresponding to the overall period of fertility of the women considered. Hypotheses about a greater acquired immunity and a higher frequency of heterozygotes for malarial genes, like thalassaemia and G-6-PD deficiency, in the area where malaria was more intense, are proposed to explain the higher fitness of women living in this area. The comparison between frequencies of heterozygotes for thalassaemia and G-6-PD deficiency, obtained by Siniscalco et al. for Sardinian villages in the two different malaria-infested areas, shows a significant difference when the areas are examined as a whole, but a great variability (principally for G-6-PD deficiency) between villages. Changes in ecological factors could have modified the geographical distribution of malaria today, compared with the distribution that may have determined the frequencies of heterozygotes many years ago.     

On the relation between malaria and G-6-PD deficiency

On the basis of the hypothesis that in the regions where favism is present a high correlation exists between endemic malaria and the frequency of G-6-PD deficiency, Huheey and Martin (1975) in a recent paper suggest that the haemolytic event in a malarial environment is a favourable selective factor. Therefore, the fitness of the G-6-PD-deficient individual who shows haemolysis is higher than that of those who do not show haemolysis. Modiano (1976) also suggested that haemolysis may not be a negative component of the selective forces which act on the G-6-PD-deficient variants.

In this paper, some facts which make these hypotheses unlikely are considered. Other, more promising, lines for the analysis of the complex relation between malaria and G-6-PD deficiency are suggested.

In Sardinia and in the area of the Po Delta, even though favism is present, there is a very low correlation between the frequency of G-6-PD deficiency and past malarial morbidity. Therefore, the situation is similar to that observed in other parts of the world, in which malaria is highly endemic, but where favism is absent.

The following facts seem to be in contrast with the possibility that haemolysis could `by itself' be a favourable event: (1) In the hemizygous male, haemolysis due to favism is generally severe and there is a high mortality rate; (2) In the heterozygous female, the erythrocytes with G-6-PD deficiency seem to show a low parasite rate compared to normal cells, and it is just these erythrocytes that are destroyed during the haemolytic crisis; (3) In malarial environments, enzymopenic variants associated with continuous haemolysis have not been selected. A positive selection of such variants would be expected if haemolysis was `by itself' a positive factor.

Several observations suggest that the G-6-PD system interacts with various factors, both genetical (thalassaemia, erythrocyte acid phosphatase, adenosine deaminase) and environmental (Vicia Faba, altitude, viral and protozoal diseases). In a malarial environment, therefore, the fitness of the different G-6-PD genotypes depends on numerous variables. This could explain the low correlation generally observed between the degree of malarial endemicity and the frequency of G-6-PD deficiency.

Further analysis of the above interactions could elucidate the mechanisms which have brought about the selection of certain types of enzymopenic variants in malarial regions.

     

Exchange Transfusion Using G-6-PD Deficient or Hgb-AS Blood in Icteric Neonates

The sickle cell trait (Hgb-AS) and G-6-PD deficiency are two genetic defects which increase the hemolytic susceptibility of erythrocytes. As these two traits are common in Nigeria, blood transfusions with such defective cells are frequently given. In this study, the immediate and long-term effects of using either normal blood or blood with either or these defects for exchange transfusions in 115 neonates have been examined. Infants transfused with G-6-PD deficient blood were compared with those transfused with G-6-PD normal blood. Similarly, neonates transfused with Hgb-AS blood were compared with those who received Hgb-AA blood. There was no statistically significant difference in post-exchange serum bilirubin levels (followed for one week), hemoglobin, hematocrit, and reticulocyte counts (followed for three months). It was concluded that under normal circumstances, the use of G-6-PD deficient blood or Hgb-AS blood does not increase the risk of exchange transfusion in infants with hyperbilirubinemia.     

Variants of red cell ǵlucose-6-p-hosphate dehydroǵenase amonǵ Asiatic Indians

Among one hundfed and one unrelated Asiatic Indian males living in the Pacific north-west, five G-6-PD-deficient individuals were identified. The enzyme of three of these individuals was indistinguished elctrophoreticaly and biochemically from the Mediterranean type of deficiency. These individuals originated from the north-western parts of the Indian subcontinent. The enzyme of one individual and that of his subsequently studied beother (G-6-PD Kerala) was found to be simialr to G-6-PD Seattle by k_m G-6-P, k_m TPN, pH optimum, utilization of 2d-g-6P and Gal-6-P and electrophoretic migration rate in Tris buffer, pH 8.8. Electrophoresis on TEB buffer (pH 8.6) however, showed this variant to be different from G-6-PD Seattle, The desirability of using multiple electrophoretic methods in the elucidation of new variants is emphasized by these observations. The third abmormal G-6-PD (G-6-PD West Bengal) was unlike other mutations previously described in having higher-than normal k_m TPN and lower-than-normal k_m G-6-P and a slow electrophoretic mobilty. The identification of the Mediterranean type of G-6-PD deficiency in the north-western part of the Indian subcontinent, together with histrorical and molecular considerations, suggests affiinities of Mediterranean, Near Eastern, and North-west Indian populations.