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博茨瓦纳儿童中葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的流行情况及其相关血液学参数。

Prevalence of G6PD deficiency and associated haematological parameters in children from Botswana.

机构信息

Ministry of Health and Wellness, Private Bag 0038, Gaborone, Botswana; Department of Biological Sciences, University of Botswana, Private Bag 00704, Gaborone, Botswana.

Department of Medical Biochemistry, University of Ghana, P.O. Box 143, Korle-Bu, Accra, Ghana.

出版信息

Infect Genet Evol. 2018 Sep;63:73-78. doi: 10.1016/j.meegid.2018.05.014. Epub 2018 May 18.

Abstract

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is commonly seen in malaria endemic areas as it is known to confer a selective advantage against malaria. Recently, we reported a high proportion of asymptomatic reservoir of Plasmodium vivax in Botswana, that calls for intervention with primaquine to achieve radical cure of vivax malaria. Considering that individuals with this enzyme deficiency are at risk of haemolysis following primaquine treatment, assessment of the population for the relative frequency of G6PD deficiency is imperative. Samples from 3019 children from all the districts of Botswana were successfully genotyped for polymorphisms at positions 202 and 376 of the G6PD gene. Haematological parameters were also measured. The overall population allele frequency (based on the hemizygous male frequency) was 2.30% (95% CI, 1.77-2.83), while the overall frequency of G6PD-deficient genotypes A- (hemizygote and homozygote genotypes only) was 1.26% (95% CI, 0.86-1.66). G6PD deficiency is spread in Botswana according to the historical prevalence of malaria with a North-West to South-East decreasing gradient trend. There was no association between G6PD status and P. vivax infection. G6PD A- form was found to be associated with decreased RBC count and haemoglobin levels without a known cause or illness. In conclusion, we report for the first time the prevalence of G6PD deficiency in Botswana which is relevant for strategies in the malaria elimination campaign. Further work to examine the activities of the enzyme in the Botswana population at risk for malaria is warranted.

摘要

葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在疟疾流行地区很常见,因为它被认为对疟疾有选择性优势。最近,我们报告了博茨瓦纳存在大量无症状的间日疟原虫储存库,这需要用伯氨喹来进行根治性治疗。鉴于这种酶缺乏的个体在接受伯氨喹治疗后有发生溶血的风险,因此评估人群中 G6PD 缺乏症的相对频率是至关重要的。我们成功地对博茨瓦纳所有地区的 3019 名儿童的样本进行了 G6PD 基因第 202 和 376 位多态性的基因分型,并测量了血液学参数。总体人群等位基因频率(基于半合子男性频率)为 2.30%(95%CI,1.77-2.83),而 G6PD 缺乏基因型 A-(仅半合子和纯合子基因型)的总体频率为 1.26%(95%CI,0.86-1.66)。根据疟疾的历史流行情况,G6PD 缺乏症在博茨瓦纳广泛分布,呈从西北到东南逐渐减少的趋势。G6PD 状态与间日疟原虫感染之间没有关联。发现 G6PD A-形式与红细胞计数和血红蛋白水平降低有关,但没有已知的原因或疾病。总之,我们首次报告了博茨瓦纳 G6PD 缺乏症的流行情况,这与消除疟疾运动中的策略有关。需要进一步研究博茨瓦纳疟疾高危人群中该酶的活性。

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