Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency.
Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency.
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DOI：
10.1186/1475-2875-12-289
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发表时间：
2013-08-21
期刊：
影响因子：
3
通讯作者：
Imwong M
中科院分区：
文献类型：
--
作者：
Nantakomol D;Paul R;Palasuwan A;Day NP;White NJ;Imwong M
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症在历史上疟疾流行的国家特别普遍。虽然大多数患有G6PD缺乏症的人是无症状的，但在暴露于氧化剂后，缺乏症可导致急性溶血性贫血。一个可靠的测试是必要的诊断缺陷，以防止急性溶血危机后，例如，抗疟疾治疗。本研究的目的是调查哪种方法是这种疾病的最佳预测。本研究探讨了四种G6PD活性检测方法（荧光斑点法（FS）、高铁血红蛋白还原法（MR）、生化和细胞化学法）。这些方法伴随着血液样品的突变分析，从295个表面上健康的人与未知的G6PD缺乏症的状态。295名泰国成年人的分子特征显示，总体患病率为14.2%。G6 PD维昂占（871 G> A）最常见（83.3%），其次是G6 PD Mahidol（487 G> A）（11.9%）和G6 PD Union（1360 C> T）（4.8%）。有2例G6 PD缺陷症患者携带维昂占（871 G> A）-Mahidol（487 G> A）和维昂占（871 G> A）-Union（1360 C> T）双突变。相比之下，G6PD缺乏症的患病率为6.1% FS测试和7.1% MR测试。非缺陷型女性的G6PD活性为11 ± 2.5 IU/gHb（平均值± SD），非缺陷型男性为10.9 ± 0.6 IU/gHb。成人部分和严重缺乏的上限和下限截止点分别为5.7 IU/gHb（正常均值的60%）和0.95 IU/gHb（正常均值的10%）。所有的半合子、纯合子和双突变都与严重的酶缺乏有关（残余酶活性<正常平均值的10%），而只有14.3%的杂合子突变表现为严重的酶缺乏。基于截止值<5.7 IU/gHb，定量G6PD测定诊断83%的病例为G6PD缺陷。以细胞化学检测中阴性细胞数> 20%作为G6PD缺陷的临界值，G6PD缺陷的检出率与分子分析结果最接近（12.9%G6PD缺陷）。细胞化学方法是一个显着的预测这种疾病，而FS和MR测试被推荐用于检测严重的G6PD缺乏症在发展中国家。
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is particularly prevalent in historically malaria-endemic countries. Although most individuals with G6PD deficiency are asymptomatic, deficiency can result in acute haemolytic anaemia after exposure to oxidative agents. A reliable test is necessary for diagnosing the deficiency to prevent an acute haemolytic crisis following, for example, anti-malarial treatment. The aim of this study was to investigate which method was the best predictor of this disorder. The present study investigated four G6PD activity detections (fluorescence spot (FS), methaemoglobin reduction (MR), biochemical and cytochemical test). These methods accompanied with mutation analysis of blood samples were taken from 295 apparently healthy individuals with unknown G6PD deficiency status. Molecular characterization of 295 Thai adults revealed an overall prevalence of 14.2%. The G6PD Viangchan (871 G>A) was the most common (83.3%), followed by G6PD Mahidol (487G>A) (11.9%), and G6PD Union (1360 C>T) (4.8%). There were two cases of G6PD deficiency carrying the double mutations of Viangchan (871G > A)-Mahidol (487G > A) and Viangchan (871G > A)-Union (1360C > T). In comparison, the prevalence of G6PD deficiency was 6.1% by FS test and 7.1% by MR test. G6PD activity was 11 ± 2.5 IU/gHb in non-deficient females (mean ± SD), and 10.9 ± 0.6 IU/gHb in non-deficient males. The upper and lower limit cut-off points for partial and severe deficiency in adults were 5.7 IU/gHb (60% of the normal mean) and 0.95 IU/gHb (10% of the normal mean), respectively. All hemizygote, homozygote and double mutations were associated with severe enzyme deficiency (the residual enzyme activity <10% of the normal mean), whereas only 14.3% of the heterozygote mutations showed severe enzyme deficiency. Based on the cut-off value <5.7 IU/gHb, the quantitative G6PD assay diagnosed 83% of cases as G6PD-deficient. Using a cut-off number of negative cell >20% in the cytochemical assay to define G6PD deficiency, the prevalence of G6PD deficiency was closest to the molecular analysis (12.9% G6PD-deficient) compared to the others methods. The cytochemical method is a significant predictor of this disease, while FS and MR test are recommended for the detection of severe G6PD deficiency in developing countries.
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DOI：
10.1001/jama.1962.03050180032008
发表时间：
1962-01-01
影响因子：
120.7
作者：
BREWER, GJ;TARLOV, AR;ALVING, AS
通讯作者：
ALVING, AS
影响因子：
5.3
作者：
Iwai, K;Hirono, A;Ishii, A
通讯作者：
Ishii, A
抗疟疾药物在消除疟疾中的作用。
影响因子：
3
作者：
White NJ
通讯作者：
White NJ
影响因子：
3
作者：
Burgoine KL;Bancone G;Nosten F
通讯作者：
Nosten F
影响因子：
3.5
作者：
Louicharoen, C;Nuchprayoon, I
通讯作者：
Nuchprayoon, I