Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.

Autor: Xuan-Rong Koh D; Faculty of Science and Technology, Center of Frontier Sciences, Universiti Kebangsaan Malaysia, Selangor, Malaysia., Zailani MAH; Faculty of Medicine, Department of Pathology, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia., Raja Sabudin RZA; Faculty of Medicine, Department of Pathology, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia., Muniandy S; Faculty of Science and Technology, Center of Frontier Sciences, Universiti Kebangsaan Malaysia, Selangor, Malaysia., Muhamad Hata NAA; Faculty of Medicine, Department of Diagnostic Laboratory Services, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia., Mohd Noor SNB; Faculty of Medicine, Department of Diagnostic Laboratory Services, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia., Zakaria N; Faculty of Medicine, Department of Diagnostic Laboratory Services, Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia., Othman A; Faculty of Medicine and Health Sciences, Department of Pathology, Universiti Sains Islam Malaysia, Negeri Sembilan, Malaysia., Ismail E; Faculty of Science and Technology, Department of Biological Sciences Dan Biotechnology, Universiti Kebangsaan Malaysia, Selangor, Malaysia.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2023 Dec 12; Vol. 18 (12), pp. e0294891. Date of Electronic Publication: 2023 Dec 12 (Print Publication: 2023).
DOI: 10.1371/journal.pone.0294891
Abstrakt: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder characterized by reduced G6PD enzyme levels in the blood. This condition is common in populations exposed to malaria; an acute febrile disease caused by Plasmodium parasites. G6PD-deficient individuals may suffer from acute hemolysis following the prescription of Primaquine, an antimalarial treatment. The population at risk for such a condition includes the Senoi group of Orang Asli, a remote indigenous community in Malaysia. This study aimed to elucidate the G6PD molecular heterogeneity in this subethnic group which is important for malaria elimination. A total of 662 blood samples (369 males and 293 females) from the Senoi subethnic group were screened for G6PD deficiency using a quantitative G6PD assay, OSMMR2000-D kit with Hb normalization. After excluding the family members, the overall prevalence of G6PD deficiency in the studied population was 15.2% (95% CI: 11-19%; 56 of 369), with males (30 of 172; 17.4%) outnumbering females (26 of 197; 13.2%). The adjusted male median (AMM), defined as 100% G6PD activity, was 11.8 IU/gHb. A total of 36 participants (9.6%; 26 male and 10 female) were deficient (<30% of AMM) and 20 participants (5.4%; 4 male and 16 female) were G6PD-intermediate (30-70% of AMM). A total of 87 samples were genotyped, of which 18 showed no mutation. Seven mutations were found among 69 genotyped samples; IVS11 T93C (47.1%; n = 41), rs1050757 (3'UTR +357A>G)(39.1%; n = 34), G6PD Viangchan (c.871G>A)(25.3%; n = 22), G6PD Union (c.1360C>T)(21.8%; n = 19), c.1311C>T(20.7%; n = 18), G6PD Kaiping (c.1388G>A)(8.0%; n = 7), and G6PD Coimbra (c.592C>T)(2.3%; n = 2). Our analysis revealed 27 hemizygote males, 18 heterozygote females, 7 homozygote females, and 2 compound heterozygote females. This study confirms the high prevalence of G6PD deficiency among the Senoi Malaysian Orang Asli, with a significant degree of molecular heterogeneity. More emphasis should be placed on screening for G6PD status and proper and safe use of Primaquine in the elimination of malaria among this indigenous population.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright: © 2023 Xuan-Rong Koh et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
Databáze: MEDLINE
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