巴基斯坦南部有和无疟疾个体中 G6PD 地中海贫血的频率。

Frequency of G6PD Mediterranean in individuals with and without malaria in Southern Pakistan.

机构信息

Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan.

Aga Khan Medical College, Karachi, Pakistan.

出版信息

Malar J. 2017 Oct 24;16(1):426. doi: 10.1186/s12936-017-2069-4.

DOI:10.1186/s12936-017-2069-4

PMID:29065882

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5655902/

Abstract

BACKGROUND

Pakistan has an estimated annual burden of 1.5 million malaria cases. The current situation calls for an effective malaria control and eradication programme in this country. Currently, primaquine is an attractive option for eliminating reservoirs of Plasmodium vivax hypnozoites and killing gametocytes of Plasmodium falciparum. However, this drug causes haemolysis in individuals who are glucose-6-phosphate (G6PD) deficient. It is important to map G6PD deficiency and malaria distribution in Pakistan to design an effective malaria eradication regimen. Frequency of G6PD deficiency (G6PDd) in malaria patients has not been reported from Pakistan in any meaningful way. The purpose of this study was to evaluate the frequency of G6PD c.563C>T (G6PD Mediterranean) in male individuals with and without falciparum malaria.

METHODS

Two hundred and ten archived DNA samples from males (110 from falciparum malaria patients and 100 from healthy individuals) were utilized in this study. Healthy blood donors were selected based on stringent pre-defined criteria. Patients were confirmed for malaria parasites on microscopy and or immune chromatographic assay detecting P. falciparum histidine-rich protein 2. Parasitaemia was also computed. DNA samples were tested for G6PD c.563C>T mutation through PCR-RFLP according to the previously defined protocol and its allelic frequency was computed.

RESULTS

G6PD c.563C>T was observed in four of 110 patients with falciparum malaria and in two of 100 healthy donors. Mean (± SD) haemoglobin, median (IQR) platelet and median (IQR) parasite count in G6PD-deficient malaria-patients were 8.9 ± 0.9 g/dL, 124 × 109/L (IQR 32, 171) and 57,920/μL of blood (IQR 12,920, 540,000) respectively.

CONCLUSIONS

Cumulative allelic frequency for G6PD 563c.C>T was 0.0285 detected in 6 of 210 X-chromosomes in Southern Pakistan. Frequency for this G6PD allele was 0.0364 in malaria-patients and 0.0200 in healthy individuals. Large studies including females are needed to elucidate the true burden of G6PDd in malaria-endemic areas. The information will enable local health policy makers to design effective strategies for eliminating malaria form this region.

摘要

背景

巴基斯坦每年约有 150 万例疟疾病例。目前，该国需要一个有效的疟疾控制和消除计划。目前，伯氨喹啉是消除间日疟原虫休眠子和杀灭恶性疟原虫配子体的一个有吸引力的选择。然而，这种药物会导致葡萄糖-6-磷酸脱氢酶（G6PD）缺乏的个体发生溶血。在巴基斯坦绘制 G6PD 缺乏症和疟疾分布图谱，以设计有效的疟疾消除方案非常重要。目前，还没有从巴基斯坦以任何有意义的方式报告过疟疾患者的 G6PD 缺乏症（G6PDd）的频率。本研究的目的是评估男性中 G6PD c.563C>T（G6PD 地中海）在有和没有恶性疟原虫疟疾患者中的频率。

方法

本研究利用了 210 份来自男性的存档 DNA 样本（110 份来自恶性疟原虫患者，100 份来自健康个体）。根据严格的预先定义标准选择健康献血者。通过显微镜检查或免疫层析法检测恶性疟原虫组氨酸丰富蛋白 2来确认寄生虫。还计算了寄生虫血症。根据先前定义的方案，通过 PCR-RFLP 检测 G6PD c.563C>T 突变，并计算其等位基因频率。

结果

在 110 例恶性疟原虫患者中有 4 例和 100 例健康供者中有 2 例观察到 G6PD c.563C>T。G6PD 缺乏的疟疾病例的平均（±SD）血红蛋白、中位数（IQR）血小板和中位数（IQR）寄生虫计数分别为 8.9±0.9 g/dL、124×109/L（IQR 32,171）和 57,920/μL 血液（IQR 12,920，540,000）。

结论

在巴基斯坦南部的 210 条 X 染色体中，共检测到 6 条 G6PD 563c.C>T 的累积等位基因频率为 0.0285。该 G6PD 等位基因在疟疾患者中的频率为 0.0364，在健康个体中的频率为 0.0200。需要进行包括女性在内的大型研究来阐明疟疾流行地区 G6PDd 的真实负担。这些信息将使当地卫生政策制定者能够设计有效的策略，从该地区消除疟疾。