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PubMed1999

Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome.

In this study we analyzed the effect of the (TA)7 polymorphism of the UGT1A gene associated with Gilbert's syndrome in G6PD-deficient subjects during an acute hemolytic crisis (fabic crisis). DNA from 44 subjects originating from the same geographic area in Sardinia was analyzed for the UGT1A promoter polymorphism. The increase of unconjugated bilirubin level during fabic crisis and its relationship with UGT1A polymorphism was evaluated. The UGT1A (TA)7 TATA box variant was found in 9/44 (21%) of the G6PD deficient subjects examined. The median value for unit of increase of bilirubin (mg/dl)/unit of decrease of hemoglobin (g/dl) was higher in variant homozygous than in heterozygous and normal subjects. These findings imply a contribution of the UGT1A polymorphism associated to Gilbert's syndrome to development of the hyperbilirubinemia in G6PD deficient subjects during acute hemolytic anemia.

Anemia, Hemolytic↗
PubMed1973

Hemolytic anemia and G6PD deficiency.

The severity of enzyme deficiency often does not correlate well with the clinical severity of genetic diseases. Thus, some G6PD variants associated with severe enzyme deficiency, such as Union and Markham, cause no hemolytic problem, while some variants associated with less severe deficiency, such as Manchester, Alhambra, and Tripler, cause chronic hemolytic anemia. The kinetic characteristics of these variant enzymes have not explained the discrepancy. However, examination of the normal and variant enzymes under simulated physiologic conditions, with the effects of various intermediate metabolites and co-enzymes in red cells being taken into consideration, reveal that the G6PD's from hemolytic variant subjects are strongly inhibited by a physiologic concentration of NADPH because of their high Michaelis constant for NADP or low inhibition constant for NADPH, and they are more sensitive to inhibition by ATP. These variant enzymes cannot generate enough NADPH in red cells to maintain an adequate concentration of reduced glutathione. The nonhemolytic variant enzymes are far less sensitive to the inhibition by NADPH because of their low Michaelis constant for NADP and high inhibition constant for NADPH. The physiologic activity of these nonhemolytic variant enzymes is estimated to be more than 30 percent of the activity of the normal G6PD, and this activity is adequate to maintain the red cells unhemolyzed.

Adenosine Triphosphate↗
PubMed1979

X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD. Moreover, from the segregation of the combined phenotypes in four scorable sons from two triple heterozygotes with phase known, it seems highly probable that the AED locus is nearer to the centromere than is the G6PD locus.

Blood Group Antigens↗
PubMed1986

Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia.

The frequencies of four major red cell genetic defects, sickle haemoglobin (Hb S), glucose 6 phosphate dehydrogenase deficiency (G6PD), and alpha and beta thalassaemia, have been determined in nearly 5000 subjects from the three major Peninsular Arab States, namely Yemen (North and South), the United Arab Emirates, and Oman. All four defects are common with an overall pattern of alpha thalassaemia greater than G6PD deficiency greater than beta thalassaemia greater than Hb A/S. However, the frequencies of these within each state varies and they are, respectively, Oman: 0.389, 0.328, 0.024, and 0.038; the United Arab Emirates: 0.165, 0.087, 0.017, and 0.019; and Yemen: 0.065, 0.062, 0.0624, and 0.0095. Two, namely alpha thalassaemia and G6PD deficiency, are extremely common, but in spite of this there appears to be a lack of observed clinical disease. For example, Hb H disease and Barts hydrops fetalis were not seen and the oxidative haemolytic syndromes are rare.

Adult↗
PubMed1983

The localization of genes for HPRT, G6PD, and alpha-GAL onto the X-chromosome of domestic pig (Sus scrofa domesticus).

Pig--mouse somatic cell hybrids were obtained from fusion of HPRT--mouse cells (RAG) and pig lymphocytes. The pig-mouse hybrids examined apparently retained on the average only 9 to 15 pig chromosomes. Seven of the hybrid clones were karyotyped to determine the pig chromosome constitution, and the same hybrid clones were tested electrophoretically for the expression of pig hypoxanthine-guanine phosphoribosyltransferase (HPRT), glucose-6-phosphate dehydrogenase (G6PD), and alpha-galactosidase (alpha-GAL) phenotypes. All five of the hybrid clones which had retained the pig X-chromosome exhibited concordant expression of pig HPRT, G6PD, and alpha-GAL enzymes. These data indicate that the genes HPRT, G6PD, and alpha-GAL are located on the X-chromosome of the domestic pig.

Animals↗
PubMedDate not supplied

Human enzyme polymorphism in the Canary Islands. VII. G6PD Seattle in Canarians and North African Berbers.

Sequence analysis of the glucose-6-phosphate dehydrogenase (G6PD) variant Gc, characterized by slower electrophoretic mobility than G6PD-B, in 14 Canarian and 2 Berber males, has revealed that all of them share the G-->C mutation at nucleotide 844 in exon 8 leading to an Asp-->His substitution at amino acid 282 known as G6PD Seattle. No additional differences have been detected among them nor with the common haplotype previously found for this variant.

Africa, Northern↗
PubMed1986

Redox and energetic state of red blood cells in G6PD deficiency, heterozygous beta-thalassemia and the combination of both.

The levels of ATP, ADP, AMP, NADP, NADPH, NAD, NADH and reduced glutathione were determined in the red blood cells of individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency, beta-thalassemia (beta-thal) heterozygotes and in a boy carrying both mutations. The results obtained confirmed a reduced concentration of NADPH in G6PD deficiency and showed that with the combination of both diseases, the red blood cell contained practically undetectable levels of NADPH. Assays of some red blood cell enzyme activities known to be markedly influenced by cell age suggested that a younger mean red cell population is present in beta-thal/G6PD deficiency. Thus, the marked oxidative stress caused by beta-thal, that is apparently incompatible with G6PD deficiency, in fact exists, probably because of the residual activity of this enzyme in the younger red cells.

Adenine Nucleotides↗
PubMed2006

Prevalence of G6PD deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications.

The incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Lebanon is estimated at 10 per 1,000 in men and 0.4 per 1,000 in women. A community-based cluster sampling survey was conducted in 15 villages in all areas in Lebanon. The survey found 36 cases of G6PD deficiency among 3,000 men aged 14 years and above, yielding a cumulative incidence rate of 12 per 1,000. Of those 36 cases, 28 (77.8%) knew of their problem since they had already suffered at least one severe anaemia crisis in their childhood following the ingestion of raw green fava beans. The remaining 22.2% were not aware at all of their defect. These findings confirm that G6PD is a common genetic problem in Lebanon. The efficiency of early screening programmes in terms of preventing severe, at times potentially lethal, haemolytic crises is currently being investigated.

Adolescent↗
PubMed1999

[Detection of three common G6PD gene point mutations in Guangdong province by using ARMS].

OBJECTIVE: To detect three common G6PD gene point mutations, G1388A, G1376T and A95G, in Guangdong province and to estimate the approximate frequencies. METHODS: Using the amplification refractory mutation system(ARMS) method to detect G1388A and G1376T and the newly developed ARMS to identify A95G mutation. RESULTS: Ninety cases of G6PD deficient male were examined, and 42 of them were identified to be G1388A(46.7%), 14 G1376T(15.6%), and 12 A95G(13.3%). Totally 68 out of the 90 cases(75.6%) were of the three common mutations. The rest belong to rare or undefined mutations. CONCLUSION: ARMS method can be used in detecting common mutations of G6PD gene with the benefits of simple, fast, economic, and accurate.

Alleles↗
PubMed2001

A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man.

OBJECTIVE: To detect new mutations among 29 glucose-6-phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province. METHODS: The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals. Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing. RESULTS: Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified. Nine cases remained to be defined. The G1381A mutation is a novel mis-sense mutation, with a substitution of threonine for alanine (A461T). The resultant G6PD had reduced enzymatic activity. In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation. CONCLUSION: A novel mis-sense mutation G1381A was found. This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity. The loss of the Stu I restriction site offers a rapid method for the detection of this mutation.

Adult↗
PubMed1992

Xq28: epidemiology and sex-linkage between red-green colour blindness and G6PD deficiency.

Xq28 is the genetic locus of two closely associated conditions of red-green colour blindness and G6PD deficiency. Epidemiologically, both rank among the more frequent sex-linked clinical problems that affect military servicemen in Singapore. This retrospective study is based on the findings of 35714 subjects screened at the Medical Classification Centre--Central Manpower Base (MCC--CMPB) over an eighteen-month period using pseudoisochromatic and fluorescent techniques as well as anomaloscopic and spectrometric methods. The overall prevalence rates of red-green colour blindness, G6PD deficiency and association were determined to be 4.8%, 2.2% and 0.1% respectively. Malays showed the highest prevalence rates among the major races. Statistically significant difference was found with regards to the prevalence rates of G6PD deficiency and its association with red-green colour blindness. Review of literature yielded comparable results with a few local studies of good sample size done over the past twenty years. Sex-linkage analysis was hindered by the lack of pedigree studies.

Adolescent↗
PubMed1992

Characterization of G6PD Rohini--a new class III Indian variant.

A new Indian G6PD variant was detected in a 15 yr old Maratha male during a population screening programme in high school children in Bombay (India). The propositus and two family members having the same variant were apparently healthy. This enzyme variant has a mild erythrocyte G6PD deficiency and a slow electrophoretic mobility. It is characterized by a high Michaelis-Menton constant for G6P, a bimodal curve for pH optima and a slight decrease in the thermostability. The rate of utilization of substrate analogue is similar to that of normal. These observations suggest identification of a new class III variant, designated as G6PD Rohini.

Adolescent↗
PubMed1997

[A case of nt 1004C --> A G6PD gene mutation in Yunnan Han people].

OBJECTIVE: To search for novel G6PD gene mutation in Yunnan. METHODS: After excluding common mutations among Chinese, 2 approximately 12 exons of G6PD gene were screened by PCR-SSCP, and those with an abnormal electrophoretic pattern were further sequenced. RESULTS: During a survey of G6PD deficiency in a population of 823 individuals in Yunnan, 54 cases were found with the deficiency. The gene mutations were studied in 29 cases of them. Nineteen cases of nt 1388 G --> A, and 1 of nt 1381 G --> A mutations were identified. In the remaining 9 cases, an abnormal PCR-SSCP pattern was found in one case. A single base substitution of nt 1004 C --> A, which resulted in Ala339 --> Asp, was revealed by PCR-direct sequencing. CONCLUSION: This mutation is the second case in Chinese, and the first case in Yunnan province.

Adult↗
PubMedDate not supplied

[G6PD phenotype and red blood cell sensitivity to the oxidising action of chlorites in drinking water].

Chlorine dioxide is widely used to replace sodium hypochlorite in the disinfection of surface waters for human consumption, in order to avoid or reduce the formation of organohalogenated compounds with mutagenic and carcinogenic activity. However, chlorine dioxide may lead to the formation of by-products, such as chlorites and chlorates, that have an oxidative effect on the blood corpuscled fraction. In this investigation, blood crasis was assessed in relation to the G6PD phenotype and the consumption of tap water, disinfected with chlorine dioxide, or bottled mineral water from non-disinfected underground sources. The results show that the effect of oxidative stress resulting from the uptake of chlorites with drinking water is not additive to the effect due to G6PD deficiency. The observed change in haematological parameters, including those related to the G6PD polymorphism, is always within the normal range. However, it is still possible that more relevant changes would follow exposure to chlorites concentrations greater than that observed in the present study.

Chlorides↗
PubMed1990

Mathematical modelling of energy and redox metabolism of G6PD-deficient erythrocytes.

A mathematical model aimed at the study of erythrocyte metabolism under normal conditions and under glucose 6-phosphate dehydrogenase (G6PD) deficiency has been developed. The degree of deficiency as predicted by the model on the basis of calculated upper limits of oxidative load as well as of maximal methylene blue stimulation correlates with the individual clinical manifestation of the metabolic disease. Therefore, the model permits to judge the degree of metabolic disorder in the presence of G6PD enzymopathies if the kinetic properties of the defect enzyme are known. Experimentally accessible parameters for an assessment of the oxidative load capacity of cells in vivo are proposed. Furthermore, the model predicts that the threshold of tolerance as to energetic load is drastically reduced in the case of severe G6PD deficiency.

Energy Metabolism↗
PubMed1989

Percentage glycosylated haemoglobin in normal, G6PD deficient and HbSS Saudi Arabs.

Reference values have been established for erythrocyte glycosylated haemoglobin levels in a normal Saudi population and in subjects with various haematological disorders. The mean glycosylated haemoglobin levels (SE) were 7.28% (0.039) for normal, 6.04% (0.057) for G6PD deficient, 4.40% (0.081) for homozygous sickle cell, and 6.44% (0.109) for heterozygous sickle cell subjects. Values of 6.26% (0.103) and 4.75% (0.127) for glycosylated haemoglobin were determined for heterozygous and homozygous sickle cell subjects with G6PD deficiency, respectively. Statistical analysis of the data shows significant differences in the extent of glycosylation between G6PD deficient, HbSS and normal controls. Where possible the results are compared to values reported for other populations.

Adolescent↗
PubMed1986

Distribution of red cell G6PD and 6PGD phenotypes in Saudi Arabia.

A total of 1112 randomly selected Saudi Arabs, of both sexes living in Jeddah and the surrounding areas, were studied for the distribution of red cell G6PD and 6PGD phenotypes by the methaemoglobin reduction test and starch-gel electrophoresis. The overall G6PD deficiency was 8.4% in males and 7.0% in females. No deficiency of 6PGD was detected. The gene frequencies at the G6PD locus were as follows: in males [GdB+ - 0.86; GdA+ - 0.05; GdB- - 0.06, GdA- - 0.02] and those in females [GdB+ - 0.85; GdA+ - 0.07; GdB- - 0.06; GdA- - 0.01] respectively. The hyperactive allele, GdBKRT originally detected in the Sudan was also present in a low frequency in Saudi Arabs. The frequency of PGDA and PGDC alleles were found to be 0.94 and 0.06 respectively. There was a significant deviation from the Hardey-Weinberg Equilibrium in the distribution of PGDC alleles with an excess of homozygotes (chi 2(1): 54.0) and lack of heterozygotes (chi 2(1): 7.31) probably due to the practice of inbreeding for many generations.

Alleles↗
PubMed1986

G6PD-deficient donor blood as a cause of hemolysis in two preterm infants.

Two premature infants who had episodes of hemolysis following blood transfusion are described. No incompatibility was found between donor and infant in either case. Further investigation of the donors' blood excluded other possible causes of hemolysis. The only anomaly found was that the donors were glucose-6-phosphate dehydrogenase (G6PD) deficient, while the infants had normal G6PD activity. Our report describes a new possible cause of hemolysis in preterm infants, and suggests that screening for G6PD deficiency may be necessary before blood is transfused to a preterm infant.

Anemia, Hemolytic↗