关于刚果共和国布拉柴维尔儿童葡萄糖-6-磷酸脱氢酶缺乏症的最新研究
An update on glucose-6-phosphate dehydrogenase deficiency in children from Brazzaville, Republic of Congo.
机构信息
Fondation Congolaise pour la Recherche Médicale (FCRM), Brazzaville, Republic of Congo.
Marien Ngouabi University, Brazzaville, Republic of Congo.
出版信息
Malar J. 2019 Feb 28;18(1):57. doi: 10.1186/s12936-019-2688-z.
BACKGROUND
Malaria transmission-blocking anti-malarial drugs, such as primaquine, offers an effective strategy for reducing the incidence of falciparum malaria. However, this drug induces haemolytic anaemia among glucose-6-phosphate dehydrogenase (G6PD) deficient individuals. The distribution of G6PD deficiency in Brazzaville, Republic of Congo and the association of G6PD deficiency with haemoglobin levels and blood cell counts were investigated.
METHODS
A total of 212 febrile children were recruited for this study. Plasmodium falciparum diagnosis was conducted by microscopy and nested PCR. Sanger sequencing was used to assess G6PD deficiency by detecting 202G>A (rs1050828) and 376A>G (rs1050829) single nucleotide polymorphisms.
RESULTS
Two hundred and twelve children were successfully genotyped for G6PD variants. Overall, 13% (27/212) of the children were G6PD deficient and 25% (25/100) females were heterozygous (11 BA- and 14 A+A-). The remaining 160 children had a normal G6PD genotype. The mean red blood and mean platelet counts were significantly lower in hemizygous male (G6PD A-) participants than in normal male (G6PD A+ or B) participants (p < 0.05).
CONCLUSION
This study gives an update on G6PD deficiency among Congolese children. Understanding the distribution of G6PD deficiency in other geographical regions is recommended before primaquine is adopted in the malaria control programme.
背景
疟原虫传播阻断抗疟药物，如伯氨喹，为降低恶性疟发病率提供了有效策略。然而，这种药物会导致葡萄糖-6-磷酸脱氢酶（G6PD）缺乏个体发生溶血性贫血。本研究旨在调查刚果共和国布拉柴维尔的 G6PD 缺乏分布情况，以及 G6PD 缺乏与血红蛋白水平和血细胞计数的相关性。
方法
共招募了 212 名发热儿童进行本研究。通过显微镜检查和巢式 PCR 进行恶性疟原虫诊断。采用 Sanger 测序检测 202G>A（rs1050828）和 376A>G（rs1050829）单核苷酸多态性，评估 G6PD 缺乏情况。
结果
成功对 212 名儿童的 G6PD 变异进行了基因分型。总体而言，13%（27/212）的儿童为 G6PD 缺乏，25%（25/100）的女性为杂合子（11 种 BA-和 14 种 A+A-）。其余 160 名儿童具有正常的 G6PD 基因型。杂合子男性（G6PD A-）的平均红细胞和平均血小板计数明显低于正常男性（G6PD A+或 B）（p<0.05）。
结论
本研究更新了刚果儿童的 G6PD 缺乏情况。建议在将伯氨喹纳入疟疾控制计划之前，了解其他地理区域的 G6PD 缺乏分布情况。
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