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PubMed1984

Haemolysis in a G6PD-deficient child induced by eating unripe peaches.

A child suffering from G6PD deficiency developed a severe haemolytic crisis without an apparent trigger. The possible pathogenetic role of the ingestion of unripe peaches was studied biochemically in this anaemia. We show that an extract from the unripe peach exerts an oxidative challenge on normal as well as on asymptomatic G6PD-deficient erythrocytes. This effect is analogous to that of the favism-inducing agents. The effect of the extract on the patient's red blood cells was more pronounced than on other asymptomatic G6PD-deficient erythrocytes, particularly during his haemolytic crisis. The chemical nature of the deleterious component was not identified. It is suggested that unripe peaches be added to the list of hazards for G6PD-deficient subjects in combination with other factors.

Child, Preschool↗
PubMed1981

Phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes.

The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these polymorphisms. However, there was a lack of acid phosphatase AB in G6PD deficient subjects from Nilgiris. The relative quantitative expression of red cell acid phosphatase genes PA, PB, and PC was 1.0, 1.2, and 1.3, respectively. The red cell acid phosphatase activity was higher (15%) in the presence of raised haemoglobin A2 and in sickle cell anaemia (21%). Those with Hp2 had 18% higher level of acid phosphatase than those with Hp1. G6PD deficient subjects had a lower level of acid phosphatase activity (20%) than those with normal G6PD activity.

Acid Phosphatase↗
PubMedDate not supplied

G6PD variants in three South American ethnic groups: population distribution and description of two new mutations.

A review is made of G6PD population surveys conducted in 4,558 European-derived, 2,484 admixed Black/Indian/White or Black/White, and 10,298 Indian subjects living in South America. Despite the fact that twice more Amerindians than Whites had been examined, no autochtonous variant was found among them, while seven different types (besides the most common Gd*B, Gd*A, Gd*A- and Gd*Med) were observed among the Whites. We also describe two new mutations in the G6PD molecule (Farroupilha, 977 C-->A and Lages, 40 G-->A), bringing the number of mutants characterized to 98. G6PD Lages is the most 5' mutation detected thus far. G6PD Seattle, previously found in the United States and Italy, seems to occur in other European countries and was observed by us in five independent Brazilian families.

Adolescent↗
PubMedDate not supplied

DNA haplotypes in the G6PD gene cluster studied in the Chinese Li population and their relationship to G6PDCanton.

In an effort to investigate the subtelomeric region of the X chromosome among Orientals, five DNA sites in the F8C and G6PD genes were analyzed in a sample of 46 chromosomes belonging to the Chinese Li population, an ethnic group characterized by a high prevalence of G6PD deficiency. The DNA sites analyzed, which are highly polymorphic in other populations, have a low degree of heterozygosity in the Li sample and, furthermore, the distribution of the corresponding haplotypes is very different from that previously observed in Italian populations. Interestingly, three unrelated Li G6PD-deficient variants analyzed at the DNA level have the 1376G-->T mutation characteristic of G6PDCanton and they share the same haplotype, including the sites mentioned above, as well as eight DNA polymorphisms in the red/green color vision pigment genes located proximal to G6PD on chromosome X.

Adult↗
PubMed1992

Diagnosis of glucose-6-phosphate dehydrogenase (G6PD) mutations by DNA amplification and allele-specific oligonucleotide probes.

We have recently identified that at least four types of mutation are responsible for the glucose-6-phosphate dehydrogenase (G6PD) polymorphism in the Chinese of Taiwan. Two mutations (487 G-->A and 493 A-->G) occurring at nucleotide position 487 and 493, respectively, create Alu I and Ava II recognition sites which enabled us to directly examine these two mutations by PCR/restriction enzyme (RE) digestion. However, the other two mutations (1376 G-->T and 1388 G-->A), which do not generate any recognizable restriction sites, were detected by DNA sequencing method which is not suitable for rapid diagnosis. Using the PCR technique, we have successfully developed a simple and rapid method for the detection of 1376 and 1388 mutations. This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers, followed by hybridization with allele-specific oligonucleotide (ASO) probes. Using the PCR/ASO and PCR/RE methods, we have successfully examined two families and 20 unrelated subjects with G6PD deficiency. Our results indicate that the PCR/ASO method is suitable for the rapid determination of 1376 and 1388 mutations. The combined use of PCR/ASO and PCR/RE methods will be suitable for rapid diagnosis of four known G6PD mutations in Chinese.

Alleles↗
PubMed1987

Preliminary results of a geographic correlation study on G6PD deficiency and cancer.

Checking the resident 1,868 males found to be G6PD deficient out of 15,964 examined, we observed the percentage of G6PD deficiency in male population largely varying among the various Sardinian towns ranging from 1 to over 50%. As preliminary analysis, in 24 towns out of 39 in which the sample was sufficiently suggestive of their whole resident male population, we calculated Standardized Mortality Rates (SMR) for all cancers and linear regression between SMRs and frequency of G6PD deficiency in the same towns. Previous observations suggested the hypothesis of a negative correlation between frequency of G6PD deficiency and incidence of cancer, as we found in the preliminary analysis of this study. The results are not sufficient either to accept or to refuse this hypothesis.

Glucosephosphate Dehydrogenase Deficiency↗
PubMed2004

G6PD is indispensable for erythropoiesis after the embryonic-adult hemoglobin switch.

Glucose 6-phosphate dehydrogenase (G6PD) (EC 1.1.1.42) is an essential enzyme for the rapid production of NADPH, as required on exposure to oxidative stress. Mouse embryonic stem (ES) cells can produce all embryonic and fetal/adult cell types. By studying the in vitro differentiation of embryoid bodies produced from G6pdDelta ES cells that are totally unable to produce G6PD protein, we found that these cells are able to differentiate into mesodermal cells, cardiomyocytes, hepatocytes, and primitive erythroid cells. However, we show here that, after the hemoglobin switch has taken place, definitive erythrocytes die by apoptosis. This apoptotic death is delayed by reducing agents and by a caspase inhibitor, but it is prevented only by the restoration of G6PD activity. Thus, G6PD proves indispensable for definitive erythropoiesis.

Animals↗
PubMed2006

Prevalence of G6PD deficiency in newborns in the south of Brazil.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and in association with intake of drugs or certain foods (for example fava) can cause haemolytic crises. The aim of this study was to determine the prevalence of G6PD deficiency in Rio Grande do Sul (RS), the southernmost state of Brazil. We tested 2799 newborn blood samples. A commercial kit was used for the quantitative measurement of G6PD activity. Of the 2799 samples, 39 (1.4%) exhibited total deficiency, 178 (6.4%) exhibited intermediate deficiency and 2582 (92.2%) were normal. We found no correlation between G6PD deficiency and ethnic origin, but a high prevalence of patients with partial deficiency could be associated with the type of colonization of RS. The combined prevalence for both types of deficiency (complete and partial) was 7.9% among the newborn population. This finding is important as both types of deficiency must receive same kind of preventive care.

Brazil↗
PubMed2006

Reactivity of blood samples spotted onto filter papers in the WST-8 method for screening of G6PD deficiency.

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) causes acute hemolytic anemia triggered by oxidative drugs such as primaquine. It is therefore essential in malaria-endemic areas for malaria patients to be confirmed for their G6PD activity before taking primaquine. The WST-8 method, a newly established screening method for G6PD deficiency, has been demonstrated to be suitable for field conditions, particularly for on-site malaria surveys. Here we report a laboratory evaluation by this method of the reactivity of blood-spotted filters. A time-course experiment was conducted to evaluate the reactivity of blood samples spotted onto 4 types of filter paper, Whatman 31ET Chr (ET), 3MM Chr (3MM), P81, and Advantec No. 2 (AD2). The rank of the relative reaction intensity was ET > 3MM = AD2 > P81. Blood-spotted filters stored at 4 degrees C gradually decreased G6PD reactivity with the passage of storage time, whereas those stored at room temperature rapidly reduced their reactivity. Unexpectedly, saponin supplementation reduced the reactivity of blood-spotted filters. In conclusion, 1) ET is the most suitable filter for the WST-8 method; 2) blood-spotted filters stored in cold condition can be assayed within 14 days, or those stored at room temperature should be tested within 3 days; and 3) reaction mixtures should not contain saponin.

Blood Preservation↗
PubMed1988

Tolerability of tiaprofenic acid in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder which can lead to acute haemolytic anaemia following ingestion of fava beans and the administration of certain drugs, mainly in subjects with bacterial or viral infections. It is common in the Mediterranean region and many variants are found in Sardinia. The aim of this study was to evaluate in vivo if treatment with tiaprofenic acid 600 mg daily for 15 days would reduce erythrocyte GSH (reduced glutathione) concentrations and thus produce erythrocytolysis (assessed by evaluation of 51Cr-labelled erythrocyte survival) in subjects with G6PD deficiency. GSH concentrations were also evaluated in vitro after incubation of G6PD-deficient erythrocytes with increasing doses of tiaprofenic acid (20, 50, 100, 150 and 200 mg/L) and with acetylphenylhydrazine 5 mg. The results obtained both in vitro and in vivo confirmed the absence of any oxidative action of tiaprofenic acid on the erythrocytes of G6PD-deficient subjects.

Aged↗
PubMed1999

[Identification of three common G6PD gene mutations in Yi minority in Yunnan province].

OBJECTIVE: To identify three common G6PD gene mutations in Yi minority in Yunnan province. METHODS: G6PD gene mutation of 28 samples from G6PD deficient patients was detected by using amplification refractory mutation system(ARMS). Samples were collected from Yi minority in Yunnan province. RESULTS: In 28 cases, 22 were identified to be three known mutations, including 12 of 1388(G-->A), 9 of 1376(G-->T) and 1 of 95(A-->G). The remaining 6 cases were undefined. CONCLUSIONS: This is the first report of G6PD gene G1376T and A95G mutations in Yi minority. The three common mutations account for 78.6% of the 28 cases.

Alleles↗
PubMed2001

G6PD deficiency: its role in the high prevalence of hypertension and diabetes mellitus.

Hypertension and diabetes mellitus represent increasing threats to the health of many populations. For reasons not completely understood, the prevalence of these diseases is higher in some ethnic groups than in others. The key to this puzzle may rest with the interplay of a defect of an enzyme-mediated process and the environment. Oxidative stress and impairment of synthesis or release of nitric oxide (NO) are being regarded as causative factors in the pathogenesis of hypertension, diabetes mellitus and atherosclerosis, among other conditions. Glucose-6-phosphate dehydrogenase (G6PD) deficiency has been overlooked as a cause of both oxidative stress and a decrease in the generation of nitric oxide (NO). G6PD generates nicotinamide adenine dinucleotide phosphate (NADPH), a co-factor in the synthesis of nitric oxide. There is impairment of the production of nitric oxide superoxide and hydrogen peroxide in G6PD-deficient granulocytes. In the polyol pathway, G6PD deficiency causes hyperglycemia, making more glucose available for the non-enzymatic production of advanced glycosylation end products (AGE's), which also causes an increase in superoxide anions and a quenching of nitric oxide. Currently, there are 200 million people worldwide with red cell x-linked chromosome defects who, with the persistent ingestion of refined carbohydrates, are at greater risk of developing hypertension or diabetes mellitus than those racial groups without the defect.

Blood Glucose↗
PubMed2002

[Expression of human G6PD gene in K562 cells mediated by retroviral vector].

OBJECTIVE: This study aimed to investigate the feasibility of gene therapy for severe G6PD deficiency. METHODS: The recombinant retroviral vector bearing normal human G6PD cDNA was constructed and transferred into the erythroleukemia cell line K562. Author identified the integration of NeoR gene in the targeted cellular DNA by means of specific PCR. Quantitative method was used to measure the expression of G6PD in the targeted cells. RESULTS: Construction of the recombinant retroviral vector was successfully established. PCR indicated the integration of NeoR gene in the targeted genomic DNA of the cells. The vector was also shown to be capable of expressing the foreign gene compared to the control (P<0.01). CONCLUSIONS: The recombinant retroviral vector is competent for transferring and expressing the G6PD gene.

Gene Expression↗
PubMed2004

[Frequency of G6PD deficiency in a group of preschool-aged children in a centrally located area of Cambodia].

The aim of this study was to determine the frequency of G6PD deficiency and assess its impact on morbidity, especially anemia, in preschool-aged children in Cambodia. A total of 151 children including 82 boys and 69 girls from the Kandal province near Phnom Penh were studied. Ages ranged from 8 to 69 months. Blood was collected in EDTA-coated tubes. Blood counts were performed with an ABX Micros 60 system and G6PD in red blood cells was measured with a Roche Cobas Mira Plus system using Gamma reagents. G6PD deficiency was found in 14 cases (13.4% of boys and 4.3% of girls). Deficiency was complete in 7.3% of children and partial in 2%. Anemia defined as hemoglobin concentration less than 110 g/l was detected in 29.1% of children. No case of anemia could be attributed to enzyme deficiency since no sign of hemolysis was observed in any of the three children presenting both conditions. Further study is needed on G6PD deficiency in Cambodia including malaria-endemic areas and on the frequency and severity of jaundice due to enzyme deficiency in newborns.

Cambodia↗
PubMed2004

[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].

OBJECTIVE: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency. METHODS: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11. RESULTS: Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation. CONCLUSION: This complex mutation may be the cause of reduced activity of G6PD enzyme.

Base Sequence↗
PubMed2005

G6PD--an old bottle with new wine.

The major role of glucose-6-phosphate dehydrogenase (G6PD) is to generate reduced nicotinamide adenine dinucleotide phosphate (NADPH), which is indispensable to reductive metabolism and maintenance of cellular redox homeostasis. Most advances in this field have been made in the pathophysiology of G6PD-deficient erythrocytes and the molecular characterization of different G6PD variants. Recently, numerous studies have shown the importance of G6PD in cell growth, development and disease progression.

Genetic Variation↗
PubMed2006

The role of the G6PD AEth376G/968C allele in glucose-6-phosphate dehydrogenase deficiency in the seerer population of Senegal.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in tropical Sub-Saharan countries. The allele most frequently associated with G6PD deficiency in this a region is G6PD 376G/202A. Here, we show that, the prevalence of G6PD deficiency is 12% in the Sereer ethnic group from Senegal ant that the 376G/968C genotype is predominant; the frequency of the 376G/202A genotype is very low in this ethnic group.

Alleles↗
PubMed2005

Screening for haemoglobinopathies and G6PD deficiency among the Mizos of Mizoram: a preliminary study.

The population of North-eastern region of India is of different tribes, races and ethnic backgrounds. The study of abnormal haemoglobins and G6PD has been usefully utilized in population genetics to evaluate the nature and extent of selective forces operating in a population. Data on haemoglobinopathies and G6PD deficiency is still not available from the State of Mizoram. The present study was aimed to document the frequency of these genetic traits in the Mizos of Mizoram. Blood samples in the form of dried filter paper spots collected from 490 Mizos were subjected to haemoglobin electrophoresis in starch agar gel for detection of haemoglobin variants and fluorescent spot test was conducted for screening of G6PD deficiency. Hb E was the only haemoglobin variant detected. The prevalence of the carreer state was documented to be 1.5%. G6PD deficiency was prevalent in 17.5% of this population. The prevalence of Hb E was much lower and that of G-6PD deficiency was found to be much higher than what has been reported from most other states of the north-eastern region of India. This might point towards a different ethnic origin of this population.

Adolescent↗