Glucose-6-phosphate dehydrogenase deficiency in Saudi Arabia

A previous survey for glucose-6-phosphate dehydrogenase (G6PD) deficiency among the Saudi Arab population residing along the Persian Gulf perimeter revealed a high frequency of the enzyme defect among subjects from oasis areas. The investigation reported was undertaken to supplement the previous study using a screening test with the same reliability as the conventional Motulsky brilliant cresyl blue procedure, to measure enzyme activity with a colorimetric assay among a small group of Saudis, and to study the distribution of the sickling trait among the same population. The findings substantiated the earlier study, indicated a close correlation between the distribution of the sickling trait and the enzyme defect, revealed a striking association between the sickling trait and G6PD deficiency among oasis subjects, and revealed a broad range of enzyme activity among enzyme-deficient males.     

Glucose-6-phosphate dehydrogenase deficiency among ethnic groups in Iraq

A total of 889 cord blood samples collected from newborn infants of both sexes and 563 samples of venous blood collected from adult males in Iraq were examined for evidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency. The deficiency was proved to exist in all ethnic groups in Iraq and in both adult males and infants. The overall incidence of the deficiency was 8.9% in the adults and 8.4% in the infants. The difference is not statistically significant. Evidence is given to suggest that favism (“khsaissa”) is known to the people of southern Iraq.     

Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy. It can also lead to life-threatening haemolytic crises in childhood and at later ages, by interacting with specific drugs and with fava beans in the diet. The complications of G6PD deficiency can largely be prevented by education and information, and neonatal jaundice can be successfully treated by phototherapy, a cheap and simple approach suitable for use in primary health care. This update describes developments in the methodology for characterizing G6PD deficiency, recent knowledge of the factors that can cause haemolysis, community approaches for prevention of haemolytic crises and neonatal jaundice, and the implications of recent advances at the DNA level.     

Glucose-6-phosphate dehydrogenase deficiency: clinical presentation and eliciting factors

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a hereditary X-linked disorder, is the most common enzymatic disorder of red blood cells in humans, affecting more than 200 million people worldwide. The prevalence is increasing in the Netherlands due to immigration of people from the Middle East and Africa. We present three different clinical manifestations of G6PD deficiency: neonatal jaundice, haemolysis provoked by infection and haemolysis caused by fava beans. The pathophysiology and treatment are discussed. Furthermore a recent update of chemicals which should be avoided in G6PD deficiency is provided.     

Glucose-6-phosphate dehydrogenase deficiency, neonatal tetanus and neonatal jaundice in Nigeria: Clinical observation

In a study of 92 cases of neonatal tetanus (NNT), it was found that 23 (25%) had associated neonatal jaundice (NNJ) but in none of them was NNJ severe enough to cause kernicterus. Glucose-6-Phosphate dehydrogenase (G-6-PD) deficiency was less common in babies with NNT than expected in general population (p 0.02). These babies with NNT were as exposed to icterogenic agents as jaundiced babies previously reported from the same institution. The lower incidence of G-6-PD deficiency in babies with NNT was probably due to the fact that G-6-PD deficient babies on exposure to icterogenic agents develop severe NNJ early and may die of kernicterus. Antibiotic therapy in jaundiced babies may prevent NNT in some of the G-6-PD deficient babies who are more prone to severe NNJ. More of the G-6-PD normal babies therefore remained at home till they develop NNT.

It is speculated that steps taken to prevent NNJ in the G-6-PD deficient babies by avoiding application of potentially infected icterogenic agents (i.e. menthol containing dusting powder or balms) to the cord will also prevent NNT in some of the G-6-PD normal babies.     

葡萄糖-6-磷酸脱氢酶缺乏症新生儿葡萄糖-6-磷酸脱氢酶及其基因突变的研究

目的探讨葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症新生儿G6PD与其基因突变情况。 方法2017年8月至2019年4月,在上海市儿童医院新生儿筛查中心进行G6PD缺乏症筛查的新生儿为105 766例,初筛G6PD缺乏症呈阳性患儿为217例,选择其中被召回进行G6PD复筛和(或)基因检测的161例新生儿为研究对象。这161例新生儿均接受G6PD复筛,其中146例接受G6PD基因检测。同时对男性患儿及其母亲、女性患儿及其父母(将男性患儿母亲与女性患儿父母统称为患儿家系成员)进行G6PD活性和基因检测,分析患儿及其家系成员G6PD活性、G6PD基因突变位点地域性分布特点,并分析G6PD活性与不同G6PD基因突变位点的关系。采用Mann-Whitney U检验或Kruskal-Wallis H秩和检验,对不同患儿与其家系成员的G6PD活性,以及不同G6PD基因突变位点患儿及其家系成员的G6PD活性进行比较。本研究研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求,并与患儿监护人签署临床研究知情同意书。 结果①本组联合实验室诊断和(或)基因诊断的结果,最终确诊的G6PD缺乏症新生儿为124例(经G6PD活性确诊为121例,G6PD基因检测确诊为113例,二者同时确诊为110例)。②经G6PD活性检测确诊为G6PD缺乏症的121例患儿中,男、女性患儿分别为103、18例。这121例患儿的G6PD活性为0.42 U/g血红蛋白(Hb)(0.35～0.67 U/g Hb),显著低于其家系成员的1.17 U/g Hb(0.91～1.42 U/g Hb),男性患儿G6PD活性为0.40 U/g Hb(0.32～0.53 U/g Hb),显著低于其母亲的1.12 U/g Hb(0.91～1.28 U/g Hb),女性患儿G6PD活性为1.16 U/g Hb(0.92～ 1.46 U/g Hb),显著低于其父母的1.74 U/g Hb(0.69～2.80 U/g Hb),并且上述差异均有统计学意义(Z＝ -9.981、-10.832、-2.021,P<0.001、<0.001、＝0.043)。③本组161例受试儿中,共计146例患儿及其185例家系成员进行G6PD基因检测的结果显示,227例(113例患儿与114例患儿家系成员)携带G6PD基因突变,其中3例为复合型突变,共计检出230个G6PD基因突变位点,前4位为1376G>T、1388G>A、95A>G、1024C>T,占77.8%(179/230)。227例G6PD基因突变携带者的祖籍为福建省、广西壮族自治区、广东省、江西省、四川省及其他地区者分别为43、39、35、34、30与46例,其前2位G6PD基因突变位点分别为1376G>T与1388G>A,1388G>A与1376G>T,871G>A与1024C>T,1388G>A与871G>A,1024C>T与1376G>T,以及1376G>T与1388G>A。④本组前4位G6PD基因突变位点(1376G>T、1388G>A、95A>G、1024C>T)携带者的G6PD活性比较,差异无统计学意义(χ²＝7.642,P＝0.061)。 结论G6PD活性检测和G6PD基因检测,对G6PD缺乏症患儿都具有诊断意义。G6PD缺乏症患儿及其家系成员G6PD基因突变位点分布具有地域性特点,其G6PD基因突变位点与G6PD活性无明显相关性,临床不能以该病患儿G6PD基因突变位点推测其G6PD活性。     

海南省白沙黎族自治县新生儿葡萄糖-6-磷酸脱氢酶缺乏症基因特征分析

目的 了解海南省白沙黎族自治县新生儿葡萄糖-6-磷酸脱氢酶缺乏症发病情况和基因特征.方法 以新生儿干血斑为样本,使用荧光分析法筛查葡萄糖-6-磷酸脱氢酶,筛查阳性疑似病例使用葡萄糖-6-磷酸脱氢酶缺乏症基因试剂盒(PCR+导流杂交法)进行基因分型,如提示有新突变的样本则外送测序进行家系验证.结果 在2 970例新生儿当...     

葡萄糖-6-磷酸脱氢酶缺乏症基因突变分析

目的探讨红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症患儿及其父母的G-6-PD基因突变类型,分析G-6-PD缺乏症的遗传特点。 方法选择2013年7月1日至2015年7月1日,于成都市妇女儿童中心医院临床诊断为G-6-PD缺乏症的12例患儿为研究对象。分析其病例资料,并通过二代基因测序(NGS)技术,检测12例患儿及其父母的G-6-PD基因突变发生情况,分析G-6-PD缺乏症的遗传规律。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》,并与患儿监护人签署知情同意书。 结果①本研究12例临床诊断为G-6-PD缺乏症的患儿,全部检出G-6-PD基因突变,突变类型共计7种,包括6种单个基因位点突变及1种复合基因位点突变。11例单个基因位点突变中,c. 1388G>A及c. 487G>A基因突变各为3例,c. 1376G>T基因突变为2例,c. 95A>G、c. 871G>A及c. 1024C>T基因突变各为1例;复合基因突变c.[-8-631G>A; 1388G>A]为1例。②本研究12例G-6-PD缺乏症患儿中,10例患儿为母亲遗传,包括9例半合子男性患儿及1例杂合子女性患儿(c. 1388G>A);1例半合子男性患儿为自身突变(c. 1024C>T);1例纯合子女性患儿为双亲遗传,为少见c. [-8-631G>A; 1388G>A]复合基因突变。 结论G-6-PD缺乏症男性半合子、女性纯合子及女性杂合子,均可表现为G-6-PD严重缺乏而发病。外周血基因检测可为G-6-PD缺乏症产前咨询及确诊提供依据,从而预防G-6-PD缺乏引发的急性溶血性贫血。     

Haemolysis with Mediterranean spotted fever and glucose-6-phosphate dehydrogenase deficiency

Mediterranean spotted fever with haemolysis is reported in a glucose-6-phosphate dehydrogenase deficient Algerian man. The clinical course was unusually severe for a 27-year-old patient. The authors suspect G6PD deficiency to be a cause of enhanced severity in Mediterranean spotted fever as well as in other rickettsioses.     

From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency

Pyruvate kinase (PK) deficiency is a common cause of hereditary non-spherocytic haemolytic anaemia. It is an autosomal recessive disorder caused by mutations in the gene coding for erythrocyte and liver-type pyruvate kinase (PKLR). So far, more than 130 mutations in this gene have been identified. Clinical symptoms, usually restricted to homozygous and compound-heterozygous individuals, are variable, ranging from neonatal jaundice requiring erythrocyte transfusions to a fully compensated haemolytic anaemia. The exact mechanism of erythrocyte destruction is unknown, however adenosine-triphosphate depletion and an increase in 2,3-disphosphoglycerate are thought to be important. The diagnosis of pyruvate kinase deficiency depends upon the demonstration of low PK enzyme activity. Due to the pitfalls in determining true PK activity, DNA testing is a valuable tool in the diagnosis of pyruvate kinase deficiency. By centralizing the molecular diagnostics of pyruvate kinase deficiency in Utrecht, more care can be provided for the diagnosis, treatment and support of patients.     

云南省西双版纳州傣族、布朗族、基诺族葡萄糖-6-磷酸脱氢酶缺乏症调查

目的 了解西双版纳州傣族、布朗族、基诺族3个特有少数民族红细胞葡萄糖-6-磷酸脱氢酶(G6PD)缺乏的现况.方法 采用荧光斑点试验,现况调查时对所有7岁以下儿童进行G6PD检测及问卷调查.结果 G6PD缺乏检出比例为2.2 %(60/2 715);男童缺乏检出比例为2.7 %(37/1 372)、女童为1.6 %(23/1 403),男童高于女童,但差异无统计学意义(P>0.05);G6PD缺乏检出比例汉族居首位为6.2 %(6/96),其后依次为傣族2.6 %(86/3 328)、基诺族2.0 %(18/904)、布朗族0.4 %(4/1 000),汉族高于其它民族,傣族和基诺族高于布朗族,差异均有统计学意义(P＜0.01);G6PD缺乏检出比例勐腊县居首3.4 %(31/902),依次景洪市1.7 %(10/606),勐海县1.5 %(19/1 269),勐腊县高于勐海县和景洪市,差异有统计学意义(P＜0.01).结论 进行人群筛检以发现携带者从而减少遗传缺陷婴儿的出生显得尤为重要,筛查人群除儿童外,重点应放在育龄人群.对筛检阳性者应进一步进行基因诊断,防止携带者婚配,降低家族遗传风险,提高出生人口素质.     

新生儿葡萄糖6磷酸脱氢酶缺乏症筛查及基因突变类型鉴定

目的:对新生儿进行葡萄糖6磷酸脱氢酶(G6PD)缺乏症的筛查及基因突变类型鉴定,了解上海地区G6PD缺乏症的发生率及基因突变类型特点,以便防病治病,提高健康水平。方法:用荧光法测定滤纸干血片上的G6PD活性进行初筛,用G6PD/6PGD比值法复诊,再用突变特异性扩增系统(ARMS)对确诊患儿及家系作基因突变类型鉴定。结果:34 506例新生儿中确诊患儿62例,占0.18%,男孩检出率大于女孩(男∶女=7.9∶1)。突变类型以G1388A居多,其次为G1376T。结论:开展新生儿G6PD缺乏症筛查对预防疾病有重要意义,基因突变类型鉴定将得到广泛应用。