• Parasites, Hosts and Diseases
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• 제59권5호
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• pp.447-455
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• 2021

Vivax malaria incidence in Korea is now decreased and showing a low plateau. Nowadays, vivax malaria in Korea is expected to be successfully eliminated with anti-malaria chemotherapy, primaquine, and vector control. The glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with potential hemolytic anemia after primaquine administration. This inborn disorder has a pivotal polymorphism with genetic variants and is the most prevalent X-chromosome-linked disorder. The prevalence of G6PD deficiency was previously reported negligible in Korea. As the population of multicultural families pertaining marriage immigrants and their adolescents increases, it is necessary to check G6PD deficiency for them prior to primaquine treatment for vivax malaria. The prevalence of G6PD variants and G6PD deficiency in multicultural families was performed in 7 counties and 2 cities of Jeollanam-do (Province), Gyeonggi-do, and Gangwon-do. A total of 733 blood samples of multicultural family participants were subjected to test the phenotypic and genetic G6PD deficiency status using G6PD enzyme activity quantitation kit and PCR-based G6PD genotyping kit. The G6PD phenotypic deficiency was observed in 7.8% of male adolescent participants and 3.2% of materfamilias population. Based on the PCR-based genotyping, we observed total 35 participants carrying the mutated alleles. It is proposed that primaquine prescription should seriously be considered prior to malaria treatment.

• Parasites, Hosts and Diseases
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• 제60권4호
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• pp.281-288
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• 2022

Malaria continues to be one of the most crucial infectious burdens in endemic areas worldwide, as well as for travelers visiting malaria transmission regions. It has been reported that 8-aminoquinolines are effective against the Plasmodium species, particularly primaquine, for anti-hypnozoite therapy in P. vivax malaria. However, primaquine causes acute hemolytic anemia in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Therefore, G6PD deficiency testing should precede hypnozoite elimination with 8-aminoquinoline. Several point-of-care devices have been developed to detect G6PD deficiency. The aim of the present study was to evaluate the performance of a novel, quantitative G6PD diagnostics based on a metagenomic blue fluorescent protein (mBFP). We comparatively evaluated the sensitivity and specificity of the G6PD diagnostic modality with standard methods using 120 human whole blood samples. The G6PD deficiency was spectrophotometrically confirmed. The performance of the G6PD quantitative test kit was compared with that of a licensed control medical device, the G6PD strip. The G6PD quantitative test kit had a sensitivity of 95% (95% confidence interval (CI): 89.3-100%) and a specificity of 100% (95% CI: 94.3-100%). This study shows that the novel diagnostic G6PD quantitative test kit could be a cost-effective and time-efficient, and universally mandated screening tool for G6PD deficiency.

• Clinical and Experimental Pediatrics
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• 제60권4호
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• pp.106-111
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• 2017

Purpose: This study aimed to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among infants with neonatal indirect hyperbilirubinemia (NIH); compare G6PD-deficient and G6PD-normal patients regarding hyperbilirubinemia and need for exchange transfusions (ET); and assess risk factors for ET and kernicterus. Methods: This is a case-control retrospective study. Medical records of NIH patients admitted to the Pediatric Department, Salmaniya Medical Complex, Bahrain, between January 2007 and June 2010 were reviewed. Data on sex, age at presentation, hospitalization duration, need for ET, hemoglobin (Hb) level, reticulocyte count, direct Coombs test, serum total and indirect bilirubin levels, thyroid function, blood and urine cultures, G6PD status, and blood groups were collected and compared between the G6PD-deficent and G6PD-normal patients. Results: Of 1,159 NIH patients admitted, 1,129 were included, of whom 646 (57%) were male. Among 1,046 patients tested, 442 (42%) were G6PD deficient, 49 (4%) needed ET, and 11 (1%) had suspected Kernicterus. The G6PD-deficient patients were mainly male (P<0.0001), and had lower Hb levels (P<0.0001) and higher maximum bilirubin levels (P=0.001). More G6PD-deficient patients needed ET (P<0.0001). G6PD deficiency (P=0.006), lower Hb level (P=0.002), lower hematocrit count (P=0.02), higher bilirubin level (P<0.0001), higher maximal bilirubin level (P<0.0001), and positive blood culture result (P<0.0001) were significant risk factors for ET. Maximal bilirubin level was a significant risk factor for kernicterus (P=0.021) and independently related to ET (P=0.03). Conclusion: G6PD deficiency is an important risk factor for severe NIH. In G6PD-deficent neonates, management of NIH should be hastened to avoid irreversible neurological complications.

• Parasites, Hosts and Diseases
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• 제61권2호
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• pp.154-162
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• 2023

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by X-linked recessive disorderliness. It induces severe anemia when a patient with G6PD deficiency is exposed to oxidative stress that occurs with administration of an antimalarial drug, primaquine. The distribution of G6PD deficiency remains unknown while primaquine has been used for malaria treatment in Myanmar. This study aimed to investigate the prevalence of G6PD deficiency and its variants in Chin State, Myanmar. Among 322 participants, 18 (11 males and 7 females) demonstrated a G6PD deficiency. Orissa variant was dominant in the molecular analysis. This would be related to neighboring Indian and Bangladeshi population, in which Orissa variant was also reported as the main mutation type. The screening test for G6PD deficiency before primaquine treatment appears to be important in Myanmar.

• Journal of Applied Biological Chemistry
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• 제65권4호
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• pp.329-335
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• 2022

Essential minerals are important for human health because they support biochemical reactions in metabolism and may play a role in the development of glucose-6-phosphate dehydrogenase deficiency (G6PD). We investigated the relationship between calcium, magnesium, urea, creatinine, total protein, glucose and vitamin D levels in G6PD deficiency in this study. The control group consisted of 40 people (23 females and 17 males) and the patient group consisted of 50 people (20 females and 30 males), all of whom were between the ages of (1-12 years). The findings revealed that the calcium level in patients, depending on sex factor, has a highly significant increase (p <0.0001) when compared to the control group, especially in children who are females rather than males who are affected by G6PD deficiency. In addition, the level of magnesium was found to be significantly different (p <0.0001) in children male patients when compared to the control group. On the other side, the level of total protein was found to be significantly high in children patients (p <0.01) when comparing with control group, and the levels of urea, creatinine and glucose were found to be highly significant increase (p <0.001) in patients when comparing to healthy groups, vitamin D levels were significantly lower (p <0.0001) with G6PD deficiency comparing to control group. In conclusion, the low and high significant associations between vitamin D, calcium, magnesium, urea, creatinine, and glucose indicate that more research is needed to better understand their roles in G6PD development.

• Clinical and Experimental Reproductive Medicine
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• 제43권4호
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• pp.193-198
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• 2016

Objective: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect. G6PD plays a key role in the pentose phosphate pathway, which is a major source of nicotinamide adenine dinucleotide phosphate (NADPH). NADPH provides the reducing equivalents for oxidation-reduction reductions involved in protecting against the toxicity of reactive oxygen species such as $H_2O_2$. We hypothesized that G6PD deficiency may reduce the amount of NADPH in sperms, thereby inhibiting the detoxification of $H_2O_2$, which could potentially affect their motility and viability, resulting in an increased susceptibility to infertility. Methods: Semen samples were obtained from four males with G6PD deficiency and eight healthy males as a control. In both groups, motile sperms were isolated from the seminal fluid and incubated with 0, 10, 20, 40, 60, 80, and $120{\mu}M$ concentrations of $H_2O_2$. After 1 hour incubation at $37^{\circ}C$, sperms were evaluated for motility and viability. Results: Incubation of sperms with 10 and $20{\mu}M\;H_2O_2$ led to very little decrease in motility and viability, but motility decreased notably in both groups in 40, 60, and $80{\mu}M\;H_2O_2$, and viability decreased in both groups in 40, 60, 80, and $120{\mu}M\;H_2O_2$. However, no statistically significant differences were found between the G6PD-deficient group and controls. Conclusion: G6PD deficiency does not increase the susceptibility of sperm to oxidative stress induced by $H_2O_2$, and the reducing equivalents necessary for protection against $H_2O_2$ are most likely produced by other pathways. Therefore, G6PD deficiency cannot be considered as major risk factor for male infertility.

• Parasites, Hosts and Diseases
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• 제60권1호
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• pp.15-23
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• 2022

Erythrocytes deficient in glucose-6-phosphate dehydrogenase (G6PD) is more susceptible to oxidative damage from free radical derived compounds. The hemolysis triggered by oxidative agents such as primaquine (PQ) is used for the radical treatment of hypnozoites of P. vivax. Testing of G6PD screening before malaria treatment is not a common practice in Thailand, which poses patients at risk of hemolysis. This retrospective study aimed to investigate the prevalence of G6PD in malaria patients who live in Southern Thailand. Eight hundred eighty-one malaria patients were collected for 8-year from 2012 to 2019, including 785 (89.1%) of P. vivax, 61 (6.9%) of P. falciparum, 27 (3.1%) of P. knowlesi, and 8 (0.9%) of mixed infections. The DiaPlexC genotyping kit (Asian type) and PCR-RFLP were employed to determine the G6PD variants. The result showed that 5 different types of G6PD variants were identified in 26 cases (2.9%); 12/26 (46.2%) had Mahidol (487G>A) and 11/26 (42.3%) had Viangchan (871G>A) variants, while the rest had Kaiping (1388G>A), Union (1360C>T), and Mediterranean (563C>T) variants. G6PD Songklanagarind (196T>A) variant was not found in the study. Our result did not show a significant difference in the malaria parasite densities in patients between G6PD-deficient and G6PD-normal groups. According to our findings, testing G6PD deficiency and monitoring the potential PQ toxicity in patients who receive PQ are highly recommended.

• 한국동물학회지
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• 제17권4호
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• pp.145-158
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• 1974

한국인의 G-6-PD 결핍, acetylator phenotype, acatalasemia 및 hypocatalasemia의 출현빈도를 서울, 경기도 강화군 교동도, 강원도 원성군 문막면 및 강원도 양양군 양야읍에서 각각 조사했다. 한편 교동도 거주집단의 격리 상태를 보기 위해서 색감이상자 빈도도 아울러 조사했으며 그 결과는 다음과 같다. 1) G-6-PD 결핍의 평균 출현빈도는 1.33%로서, 서울에서 0.67%, 교동도 3.41%, 문막면 1.27%, 양양읍에서는 0%를 나타냈다. 2) 색감이상과 G-6-PD 결핍은 열성인자에 의한 반성유전형질이며 인류유전의 표식인자(gene marker)로 사용된다. 교동도 남자집단에서 색감이상 빈도는 5.76%로 서울의 빈도 보다 약간 높았고 색감이상과 G-6-PD 결핍을 동시에 나타내는 샘플은 1예 였었다. 3) acetylator phenotype의 출현빈도는 slow type이 서울, 교동도, 문막면에서 각각 10.36%, 12.96%, 11.05%로 나타났고 slow 와 rapid유전자 빈도는 0.335과 0.665로 나타났다. 4) acatalasemia는 총 3,004명 조사 중 1명도 없었고 hypocatalasemia가 10예 검출되어 0.33%를 나타냈다. 지역적 분포는 서울에서 0.29%, 교동도 0.27%, 문막면 1.15%였다.

• 대한소아치과학회지
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• 제48권3호
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• pp.359-366
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• 2021

포도당-6-인산탈수소효소 결핍증은 X 염색체 열성으로 유전되는 세계에서 가장 흔한 효소 결핍증이다. 이 질환은 우리나라에서는 드물게 나타나지만, 다문화 가정의 증가로 유병률이 높아질 가능성이 있다. 이 결핍증의 주된 문제는 소아치과에서 일반적으로 사용되거나 처방되는 일부 약물에 의해 용혈성 빈혈이 유발될 수 있다는 점이다. 소아치과 의사는 환자의 병력에 대한 정확한 지식을 갖고 용혈을 유발할 수 있는 산화 스트레스를 피하기 위해 소아 혈액 전문의와 상담해야 한다. 가장 효과적인 치료는 빈혈을 유발할 수 있는 인자에 노출되지 않도록 예방하는 것이다. 이 질환으로 진단받은 환자들에게 위험인자에 대한 적절한 교육은 필수적이다. 이 증례보고는 G6PD 결핍증 환아에서 주의해야 할 약물과 치과적 관리 방법에 대해 논의하고자 하였다.

• 한국환경성돌연변이발암원학회:학술대회논문집
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• 한국환경성돌연변이발암원학회 2002년도 Current Trends in Toxicological Sciences
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• pp.48-64
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• 2002

The primary recognized health risk from common deficiencies in glucose-6-phosphate dehydrogenase (G6PD), a cytoprotective enzyme for oxidative stress, is red blood cell hemolysis. Here we show that litters from untreated pregnant mutant mice with a hereditary G6PD deficiency had increased prenatal (fetal resorptions) and postnatal death. When treated with the anticonvulsant drug phenytoin, a human teratogen that is commonly used in pregnant women and causes embryonic oxidative stress, G6PD-deficient dams had higher embryonic DNA oxidation and more fetal death and birth defects. The reported G6PD gene mutation was confirmed and used to genotype fetal resorptions, which were primarily G6PD deficient. This is the first evidence that G6PD is a developmentally critical cytoprotective enzyme for both endogenous and xenobiotic-initiated embryopathic oxidative stress and DNA damage. G6PD deficiencies accordingly may have a broader biological relevance as important determinants of infertility, in utero and postnatal death, and teratogenesis.-Nicol, C. J., Zielenski, J., Tsui, L.-C., Wells, P. G. An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis.