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Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.

ABSTRACT: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzyme disorders. Prevalence and variant distribution of G6PD deficiency can vary in different regions and among differing ethnic groups. To reveal the G6PD frequency and molecular characterization among the Lue ethnic group of northern Thailand, blood samples of 296 unrelated individuals collecting from 6 Lue villages were analyzed. The observed G6PD enzyme activity ranged from 0.11 to 20.60 U/g Hb. Overall, 13.51% (40/296) of the individuals were identified as having G6PD deficiency status. The prevalence in males was 14.28% (20/140), while that of females was 12.82% (20/156). The most common G6PD variants in the Lue were the Kaiping 1388G?>?A (5.40%) and Canton 1376G?>?T (6.42%) types. Observed prevalence and variant types of the G6PD gene in the Lue population are similar to that of the Tai-Kadai speaking ethnic groups in southern China, which is consistent with their historically close line of ancestry. However, the founder effect that occurred during the Lue's transboundary migration from China to Thailand showed its impact upon different patterns of G6PD distribution among each Lue village.

SUBMITTER: Sathupak S

PROVIDER: S-EPMC7858617 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.

Sathupak Suwapat S Leecharoenkiat Kamonlak K Kampuansai Jatupol J

Scientific reports 20210203 1

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzyme disorders. Prevalence and variant distribution of G6PD deficiency can vary in different regions and among differing ethnic groups. To reveal the G6PD frequency and molecular characterization among the Lue ethnic group of northern Thailand, blood samples of 296 unrelated individuals collecting from 6 Lue villages were analyzed. The observed G6PD enzyme activity ranged from 0.11 to 20.60 U/g Hb. Overall, 13.51% (4 ...[more]

PMID: 33536585

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Project description: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.

Dataset Information

Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.

Publications

Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand.

Similar Datasets

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