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PubMed2006

[Neonatal screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase in Catalonia. Pilot study in anonymous not related population].

BACKGROUND AND OBJECTIVE: This was a preliminary study on the prevalence of the HbS gene, associated with sickle cell disease, other hemoglobinopathies and G6PD deficiency of immigrant and non-immigrant population of Catalonia. PATIENTS AND METHOD: A total of 3,189 blood samples from the Catalan Neonatal Screening Program for Metabolic Diseases (CNSPMD) including 1,620 from immigrant population were screened for haemoglobinopathies and G6PD deficiency. For screening of hemoglobinopathies the high performance liquid chromatography (HPLC) method was used and for the screening of G6PD deficiency, we used the fluorescent spot test as described by ICSH. RESULTS: 1. Hemoglobinopathies: in 47 samples from immigrant population 2 cases of sickle cell anemia (phenotypes FS and FSC) were detected as well as 45 cases of heterozygote carriers of different pathological hemoglobins (HbS, HbC, HbD and HbE). 2. G6PD deficiency: in 29 samples, 3 cases of G6PD deficiency belonging to local (non-immigrant) population of G6PD were detected. CONCLUSIONS: The incidence of sickle cell disease in the risk population of Catalonia is 1 case out of 810 samples. This value is significantly higher than that reported for any of the metabolic diseases included in the CNSPMD. Despite it is a preliminary study, the results obtained give further support to the convenience of incorporating a neonatal screening of hemoglobinopathies, at least in the risk population, to the official programs of newborn screening. Due to its feasibility and low cost, a similar criterion might be adopted for the neonatal screening of G6PD deficiency.

Emigration and Immigration↗
PubMed1980

Interaction of sickle cell trait and glucose-6-phosphate dehydrogenase deficiency in Cameroon.

The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and sickle cell trait was determined in 371 Cameroonian males and 668 male blood donors in Chicago. The number of males with both sickle cell trait and G6PD deficiency was significantly greater than expected (p less than 0.05) in Cameroon. The number of males with both sickle cell trait and G6PD deficiency in the Chicago population also exceeded the exptected number, although this was not statistically significant (p greater than 0.30). A young red cell population associated with the sickle cell gene leading to elevated G6PD levels in G6PD-deficient males suggests that sickle hemoglobin may exert a beneficial effect on G6PD deficiency, rather than the opposite, as had previously been proposed. These red cells may be better able to deal with oxidative stress, which can precipitate severe hemolytic disease in G6PD deficiency.

Anemia, Sickle Cell↗
PubMedDate not supplied

Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in Al-Ain District, United Arab Emirates.

In a cross-sectional study, the activity, electrophoretic mobility and genotypes of glucose-6-phosphate dehydrogenase (G6PD) were determined among healthy, UAE national school boys from Al-Ain District in the United Arab Emirates, The prevalence of G6PD deficiency in this population sample was 11%. The majority of G6PD-deficient subjects were descendants of Omani, Baluchi or Yemeni migrants. Of 18 deficient subjects, 16 had an enzyme activity of < 10% of normal while 2 had an activity of just above 10%. Electrophoresis was performed on 166 samples and showed that, apart from deficient samples, all had the normal mobility of G6PD type B. Of the 18 deficient subjects, 14 had the B type mobility of G6PD Mediterranean and 4 had the A type mobility of G6PD A-. Genotyping demonstrated that 10 had the Mediterranean mutation while 3 had the A- mutation, consistent with their electrophoretic mobility. Another 3 had the G6PD Aures mutation, recently described as polymorphic in Algeria and Spain. The mutations in the remaining 2 subjects have not yet been identified.

Adolescent↗
PubMed1976

Erythrocyte enzymes in neonatal juandice.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a major cause of severe neonatal jaundice in Nigeria, but not all G6PD-deficient babies become jaundiced. Neonatal jaundice not attributable to G6PD deficiency nor to any other known aetiology is also common. In an effort to explain these two facts, we have measured the levels of the three enzymes G6PD, glutathione peroxidase (GSHPX), and glutathione reductase (GSSGR) in 38 jaundiced newborns, 26 control newborns, and 44 normal adults, all of them males. We could not yet prove an additive effect of GSSGR or GSHPX deficiency with G6PD deficiency in causing jaundice. There was no evidence that low levels of GSHPX per se are associated with jaundice. However, jaundiced newborns with normal G6PD had significantly lower levels of GSSGR than control newborns with normal G6PD. These data suggest that a relatively low activity of GSSGR, a riboflavin-dependent enzyme, may predispose the red cells to accelerated destruction in the neonatal period.

Adult↗
PubMed1993

Glucose-6-phosphate dehydrogenase nucleotide 1311 polymorphism in central Italy (Marche Region).

Glucose-6-phosphate dehydrogenase Mediterranean (G6PD Med) is a common G6PD variant around the Mediterranean Sea characterized by severe enzyme deficiency and B-like electrophoretic mobility. The molecular basis of G6PD Med is a single C-->T transition at nucleotide (NT) 563. A polymorphic site exists in exon 11 of G6PD gene: in the wild-type NT 1311 is a C (1311C), but in some individuals from diverse populations a T (1311T) is present instead. Recent studies suggest that this C-->T transition is in linkage disequilibrium with G6PD Med genotype. In the normal population of Southern Italy (Sicily and Calabria) who is at risk for G6PD Med the NT 1311 allelic frequency is 16.7-20%; no data are available for the other regions. We screened the population of Marche region, Central Italy, in order to know the percentage of this polymorphism in an area not at risk for G6PD Med: we found that the 1311T frequency is about one half of that found in Southern Italy.

Base Sequence↗
PubMed1986

Ribose metabolism and nucleic acid synthesis in normal and glucose-6-phosphate dehydrogenase-deficient human erythrocytes infected with Plasmodium falciparum.

The metabolism of pentose-phosphate was investigated in Plasmodium falciparum-infected normal and glucose-6-phosphate dehydrogenase (G6PD)-deficient human red blood cells in vitro. 5'-Phosphoribosyl-1-pyrophosphate (PRPP) content of infected normal red blood cells was increased 50-60-fold at the parasite trophozoite growth stage over that of uninfected cells. The PRPP increment in infected G6PD-deficient cells at comparable stage and parasitemia was only 40% of the value in normal infected cells. Red blood cell PRPP synthetase activity did not change during the growth cycle of the parasite and was similar in both normal and G6PD-deficient cells. Reduced glutathione (GSH) content of G6PD-deficient cells under conditions of culture fell to low or undetectable levels. These low levels of GSH were shown to inhibit the function of red blood cell PRPP synthetase, which requires GSH for full activity. Measurements of the incorporation of 1-14C or 6-14C selectively labeled glucose into parasite nucleic acids revealed that in normal infected red cells, approximately 20% of the pentose was produced via the oxidation of glucose-6-phosphate, whereas in infected G6PD-deficient cells (Mediterranean type), none of the pentose was produced via the oxidative pathway. It is concluded that the low level of reduced GSH found in G6PD deficiency and the resultant partial inhibition of PRPP synthetase together with the missing oxidative pathway for ribose phosphate production can account fully for the reduced parasite growth rate in G6PD-deficient red blood cells described previously. Of these two mechanisms, the predominant one is the impaired PRPP synthetase activity due to low GSH levels in enzyme-deficient red blood cells. The contribution to the ribose-phosphate pool by the hexose monophosphate shunt is relatively minor. A co-existing oxidative stress (which is often hypothesized to mediate the destruction of parasitized red blood cells) is not required to explain growth inhibition in this scheme and does not represent the most straight-forward explanation of the data described in this report.

DNA Replication↗
PubMed2003

Post-translational regulation of glucose-6-phosphate dehydrogenase activity in (pre)neoplastic lesions in rat liver.

Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) is the key regulatory enzyme of the pentose phosphate pathway and produces NADPH and riboses. In this study, the kinetic properties of G6PD activity were determined in situ in chemically induced hepatocellular carcinomas, and extralesional and control parenchyma in rat livers and were directly compared with those of the second NADPH-producing enzyme of the pentose phosphate pathway, phosphogluconate dehydrogenase (PGD). Distribution patterns of G6PD activity, protein, and mRNA levels were also compared to establish the regulation mechanisms of G6PD activity. In (pre)neoplastic lesions, the V(max) of G6PD was 150-fold higher and the K(m) for G6P was 10-fold higher than in control liver parenchyma, whereas in extralesional parenchyma, the V(max) was similar to that in normal parenchyma but the K(m) was fivefold lower. This means that virtual fluxes at physiological substrate concentrations are 20-fold higher in lesions and twofold higher in extralesional parenchyma than in normal parenchyma. The V(max) of PGD was fivefold higher in lesions than in normal and extralesional liver parenchyma, whereas the K(m) was not affected. Amounts of G6PD protein and mRNA were similar in lesions and in extralesional liver parenchyma. These results demonstrate that G6PD is strongly activated post-translationally in (pre)neoplastic lesions to produce NADPH.

Animals↗
PubMed2005

Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Yanbu, Saudi Arabia.

OBJECTIVE: To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the population tested, and to evaluate the prevalence of neonatal jaundice in newborns with G6PD deficiency. METHODS: Cord blood of all babies born between October 1996 and October 1998 at the Royal Commission Medical Center in Yanbu, Saudi Arabia, was screened for G6PD deficiency by fluorescent spot test. The results of screening of cord blood samples were reported to the physician in charge, and also placed on the files of the babies and their mothers. These babies were observed for 72 h and discharged if no jaundice developed. RESULTS: During this two-year period, 2,505 neonatal cord blood samples from 1,278 boys and 1,227 girls were screened for G6PD. There were 50 positive results for G6PD deficiency (39 boys and 11 girls), and the prevalence was estimated to be around 2%. The sex-specific prevalence for boys was 3.05%, and for girls 0.9%. Male to female ratio was 3:1. Neonatal jaundice developed in six (12%) babies, five male and one female. All were treated with phototherapy and discharged within one week of birth. CONCLUSION: The prevalence of G6PD is relatively high in Yanbu. Routine neonatal screening in areas with a high prevalence of G6PD in Saudi Arabia is justifiable.

Comorbidity↗
PubMed1998

Control of hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns using an inhibitor of bilirubin production, Sn-mesoporphyrin.

BACKGROUND: Hyperbilirubinemia in new-borns with glucose-6-phosphate dehydrogenase (G6PD) deficiency is a serious clinical problem because of the severity and unpredictability of its course. An innovative approach to this problem is suggested by previous experience with Sn-mesoporphyrin (SnMP), a potent inhibitor of bilirubin production, in moderating neonatal hyperbilirubinemia caused by ABO incompatibility, immaturity, and unspecified mechanisms. OBJECTIVE: To compare the effectiveness of the preventive and therapeutic uses of SnMP in ameliorating the course of bilirubinemia of G6PD-deficient neonates. METHODS: Neonates born at the Metera Maternity Hospital, Athens, Greece, and found to be G6PD-deficient by cord blood testing were stratified by sex and gestational age (210-265 days and >265 days) and randomized in pairs to receive SnMP (6 micromol/kg birth weight, intramuscularly) either on the first day of life (preventive use) or if and when the plasma bilirubin concentration (PBC) level reached an age-specific threshold level for intervention (therapeutic use). In the case of failure of SnMP to control the rise of PBC levels, the protocol defined precisely the threshold PBC levels for switchover to phototherapy (PT) and, if necessary, exchange transfusion. PBC was measured daily until a declining value was obtained and the case was closed. RESULTS: A total of 86 G6PD-deficient neonates were randomized: 42 in the preventive arm and 44 in the therapeutic arm. Of the latter, 20 (45%) reached PBC levels requiring therapeutic intervention and thus received SnMP. Regardless of the trial arm, none of the 86 neonates required PT, whereas in a previous study in the same population, 33% of G6PD-deficient neonates required PT. In the intrapair sequential analysis, the favored arm was decided on the criterion of the age at closure of the case being shorter by at least 1 day. After plotting 30 untied pairs in the sequential analysis graph, the preventive use of SnMP proved to be the favored arm, and the trial was stopped. At this point, there were 2 unpaired neonates, 12 tied pairs, 22 pairs in which the preventive use of SnMP was favored and 8 pairs in which the therapeutic use of SnMP was favored. In the group analysis, infants in the preventive group, compared with those in the therapeutic group, had a lower maximum PBC level (8.2 +/- 3.1 and 10.9 +/- 2.8 mg/dL, respectively), which was reached at an earlier age (63.5 +/- 34.8 and 82.2 +/- 24.7 hours, respectively) as well as a lower closing PBC level (7.2 +/- 2.9 and 9.6 +/- 2.5 mg/dL, respectively) and an earlier age at closing (89.1 +/- 35.6 and 110.8 +/- 23.6 hours, respectively). Moreover, a PBC level of >/=8.0 mg/dL, a level at which jaundice is clearly visible, was not reached by 52% of the neonates in the preventive arm and 16% of the neonates in the therapeutic arm. CONCLUSIONS: In G6PD-deficient neonates, a single dose of SnMP administered preventively or therapeutically entirely supplanted the need for PT to control hyperbilirubinemia. The preventive use of SnMP offers practical advantages in populations with a high enough prevalence of G6PD deficiency to justify cord blood screening.

Bilirubin↗
PubMed2006

Erythrocyte glucose-6-phosphate dehydrogenase from Brazilian opossum Didelphis marsupialis.

In a comparative study of erythrocyte metabolism of vertebrates, the specific activity of glucose-6-phosphate dehydrogenase (G6PD) of the Brazilian opossum Didelphis marsupialis in a hemolysate was shown to be high, 207 +/- 38 IU g-1 Hb-1 min-1 at 37 degrees C, compared to the human erythrocyte activity of 12 +/- 2 IU g-1 Hb-1 min-1 at 37 degrees C. The apparent high specific activity of the mixture led us to investigate the physicochemical properties of the opossum enzyme. We report that reduced glutathione (GSH) in the erythrocytes was only 50% higher than in human erythrocytes, a value lower than expected from the high G6PD activity since GSH is maintained in a reduced state by G6PD activity. The molecular mass, determined by G-200 Sephadex column chromatography at pH 8.0, was 265 kDa, which is essentially the same as that of human G6PD (260 kDa). The Michaelis-Menten constants (Km: 55 microM) for glucose-6-phosphate and nicotinamide adenine dinucleotide phosphate (Km: 3.3 microM) were similar to those of the human enzyme (Km: 50-70 and Km: 2.9-4.4, respectively). A 450-fold purification of the opossum enzyme was achieved and the specific activity of the purified enzyme, 90 IU/mg protein, was actually lower than the 150 IU/mg protein observed for human G6PD. We conclude that G6PD after purification from the hemolysate of D. marsupialis does not have a high specific activity. Thus, it is quite probable that the red cell hyperactivity reported may be explained by increased synthesis of G6PD molecules per unit of hemoglobin or to reduced inactivation in the RBC hemolysate.

Animals↗
PubMed1980

Glucose 6-phosphate dehydrogenase variants in Japan.

Fifty-four cases of glucose 6-phosphate dehydrogenase (G6PD) deficiency have so far been reported in Japan. Among them, 21 G6PD variants have been characterized. Nineteen out of the 21 variants were characterized in our laboratory and G6PD Heian and "Kyoto" by others. G6PD Tokyo, Tokushima, Ogikubo, Kurume, Fukushima, Yokohama, Yamaguchi, Wakayama, Akita, Heian and "Kyoto" were classified as Class 1, because all these cases showed chronic hemolytic anemia and severe enzyme deficiency. All these variants showed thermal instability. G6PD Mediterranean-like, Ogori, Gifu and Fukuoka were classified as Class 2, whereas G6PD Hofu, B(-) Chinese, Ube, Konan, Kamiube and Kiwa belonged to Class 3. All the 6 Class 3 variants were found as the results of the screening tests. The incidence of the deficiency in Japanese seems to be 0.1-0.5% but that of the cases which may slow drug-induced hemolysis would be much less. G6PD Ube and Konan appear to be relatively common in Japan.

Anemia, Hemolytic↗
PubMed1988

Strain differences in the dose-response curves of adrenalectomized, starved-refed rats to dehydroepiandrosterone (DHEA).

The effects of adrenalectomy and dehydroepiandrosterone (DHEA) doses (0, 15, 30, 60, 120 and 240 mg/kg/day ip) on hepatic enzyme activity and lipid content and on the amount of epididymal fat pad lipid were studied in starved-refed BHE and Sprague-Dawley rats. BHE rats had significantly greater relative liver size, glucose-6-phosphate dehydrogenase (G6PD) and malic enzyme (ME) activities, and percentage liver lipid but less epididymal fat pad lipid than Sprague-Dawley rats. Adrenalectomized (ADX) rats consumed significantly less food, gained less weight per day, and had less lipid in their livers and fat pads than intact rats. As the level of DHEA increased from 0 to 240 mg/kg/day there was a significant linear decrease in average daily weight gain, food intake, G6PD activity, and percentage liver lipid. At the 15 mg/kg/day dose, G6PD activity was significantly reduced without reductions in the other parameters measured. At the 120 mg/kg/day dose, however, weight gain, food intake, G6PD activity, and percentage liver lipid were significantly lower than that of the controls. At this dose DHEA treatment reduced food intake by 17% whereas it diminished average daily weight gain and G6PD activity by 30 and 56%, respectively. The 240 mg/kg/day dose of DHEA significantly reduced food intake, weight gain, liver lipid, G6PD activity, and ME activity. Intact and ADX BHE rats reduced their G6PD activity and liver lipid more rapidly than Sprague-Dawley rats as the level of DHEA administered increased. ADX Sprague-Dawley rats receiving DHEA had greater liver lipid content and enzyme activity than their intact counterparts whereas the reverse situation was true in BHE rats. These data indicate that the effect of DHEA on body weight gain, food intake, and hepatic and peripheral adiposity are dependent on the strain of rat, the adrenal status, and the DHEA dose.

Adipose Tissue↗
PubMed1999

Evaluation of the blue formazan spot test for screening glucose 6 phosphate dehydrogenase deficiency.

Several screening tests for glucose 6 phosphate dehydrogenase (G6PD) deficiency have been reported thus far, and a standardized method of testing was proposed by the International Council for Standardization in Hematology (ICSH). The screening test used in any particular laboratory depends upon a number of factors such as cost, time required, temperature, humidity, and availability of reagents. In this study, a direct comparison between three different G6PD screening methods has been undertaken. In 71 cases (50 hematologically normal volunteers, 9 hemizygous G6PD-deficient males, and 12 heterozygous deficient females), the blue formazan spot test (BFST) was compared with the conventional methemoglobin reduction test (HiRT) and the ICSH-recommended fluorescent spot test (FST-ICSH). In all cases, the results obtained with the three screening tests were correlated with the enzyme activity assayed spectrophotometrically. In hemizygous G6PD-deficient males, all cases were equally detected with the three methods: BFST (4.7-6.64, controls: 11.1-13.4), BMRT (score +3 in all 9 cases), and FST (no fluorescence in 9 cases). In heterozygous G6PD-deficient females, two methods detected 7 out of 12 cases (BFST: 8.71-11.75, controls: 11.1-13.4; and BMRT: score +3 in 7 cases), whereas the FST-ICSH missed all 12 cases that presented a variable degree of fluorescence. Although the sensitivity for G6PD-deficient carrier detection is the same for the BMRT and the BFST, the latter has the advantage of being semiquantitative and not merely qualitative. Unfortunately, none of the three screening tests compared here allowed the detection of the 100% heterozygote carrier state of G6PD deficiency.

Evaluation Studies as Topic↗
PubMed1999

Mass newborn screening for glucose-6-phosphate dehydrogenase deficiency in Singapore.

Recognition of kernicterus as a significant contributor to newborn mortality and morbidity in G6PD deficient babies and the ease with which G6PD deficiency could be detected and kernicterus prevented by avoidance of triggers, led to the establishment of mass newborn screening for G6PD deficiency in 1965. G6PD deficient newborns are identified within a day of birth by measuring the enzyme activity in cord blood. They are then physically protected from triggers by keeping them in the hospital for the first 2 weeks of life after their parents are counseled. Enzyme activity is measured using Wong's in-house modification of the Bernstein's technique or the BM G6PD Deficiency Screening test based on the Beutler assay. Close to 1.6 million newborns, representing practically 100% of all births have been screened. Analysis of data from 22,830 newborns at the National University Hospital reveals an incidence of 1.62% in all newborns. 3.15% in males and and 0.11% in females. A distinct racial variation in the incidence of deficiency was observed in males: Chinese 3.94%, Malays 2.95% and Indians 0.66%. Intermediate deficiency was most frequently identified (1.83%) in Chinese females. With the preventive measures. the incidence of kernicterus has dropped dramatically and there has been, over the last 20 years, no reported cases of kernicterus in newborns with G6PD deficiency. We are now looking at issues like comparing different assay techniques and determining a shorter period of stay in hospital. We believe that all Asians, especially Chinese babies, should be screened for G6PD deficiency, irrespective of which country the child is born.

Female↗
PubMed1999

Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathic disease in Taiwan. The mass neonatal screening of G6PD deficiency by fluorometric spot test in Taiwan was started with a pilot program in 1984. The nationwide screening was started on July 1, 1987, and a follow-up system comprising of eighteen referral hospitals, including outlying islands, was organized for confirmatory test, medical care and genetic counseling. From July 1987 to December 1997, 2,971,192 heel blood samples collected on filter paper from 1,143 delivery units were screened by four neonatal screening centers. 46,570 cases were confirmed as G6PD deficiency is estimated to be around 2.1% (male 3.1%, female 0.9%) in Taiwan. The coverage rate of neonatal screening was 99% in 1997. To assess the reliability of the confirmatory test, an external quality assurance (QA) program for G6PD assay was developed. Periodically, 3 or 5 lyophilized quality control materials with different activities of G6PD were sent to each referral hospital by speed post delivery in dry ice. From January 1988 to June 1998, 85 QA services were performed. Two hundred and seven (13.5%) abnormal QA results were found, which were attributed to clerk (11.6%), procedural (16.4%), and instrumental errors (47.3%). In aid to confirm G6PD deficiency, a method to detect the G6PD mutation by using the dried blood samples was developed. The frequencies of the mutant alleles in Taiwan were determined to be 46.8% (1376G > T), 16.2% (1388G > A), 7.9% (95A > G), 6.5% (493A > G), 5.6% (392G >T), 4.6% (1024C > T), 0.5% (487G > A) and 0.5% (519C > G), respectively.

Female↗
PubMed1999

Glucose-6-phosphate dehydrogenase deficiency in Thailand; its significance in the newborn.

The prevalence of G6PD deficiency in Thai males ranges from 3-18% depending upon the geographic region. G6PD "Mahidol" (163 Gly --> Ser) is the most common variant found in the Thai population. Almost all affected Thai individuals are not anemic and are asymptomatic. Severe acute intravascular hemolysis is occasionally seen, for instance, in those cases who have a viral infection, bacterial infection or have been exposed to chemicals or drugs. In Thailand, diagnosis of G6PD deficiency is usually made only in symptomatic cases. Neonatal screening of G6PD deficiency is not practiced nationwide, though studies have been done in several institutes. The assessment of G6PD activity in the newborn is mostly in order to find out the cause of neonatal jaundice. In our experience and that of others. G6PD deficient newborns are more prone to develop neonatal jaundice which is, on its own, no more severe than jaundice from other causes. Kernicterus due to G6PD deficiency, though still seen, is now very rare. Awareness of the hazard of hyperbilirubinemia, whatever the cause, along with active management is needed to prevent the occurrence of kernicterus. Neonatal screening is useful to detect abnormalities in the newborn. Weighing of the cost and benefit of neonatal screening should be made and the families of patients should be offered proper education and counseling to help them understand their babies' condition.

Glucosephosphate Dehydrogenase Deficiency↗
PubMed2004

The relationship between the enzyme activity, lipid peroxidation and red blood cells deformability in hemizygous and heterozygous glucose-6-phosphate dehydrogenase deficient individuals.

Glucose-6-phosphate dehydrogenase (G6PD) activity, red blood cell (RBC) lipid peroxidation and deformability were investigated in hemizygous and heterozygous G6PD deficient subjects and compared with normal individuals. None of the subjects were in acute hemolytic crises. G6PD activity was assessed based on the spectrophotometric determination of generated NADPH. Lipid peroxidation was measured as thiobarbutiric acid reactive substances (TBARS). RBC deformability was analyzed by ektacytometry. RBC lipid peroxidation was found to be significantly higher in hemizygous subjects compared to control and heterozygous subjects, while RBC deformability was found to be significantly impaired. However, although lipid peroxidation was higher than control, RBC deformability was not significantly different from control in heterozygous individuals, characterized by significantly lower RBC G6PD activity. There were no significant correlations between these three parameters when the three groups were analyzed separately, but a significant negative correlation was found to exist between G6PD activity and TBARS when the pooled data from the three groups were used for the analysis. This was also true for the relationship between RBC deformability and G6PD activity. It has been concluded that G6PD activity is not a good predictor of oxidative damage resulting in mechanical impairment in heterozygous individuals.

Adolescent↗
PubMed2002

Red cell glucose-6-phosphate dehydrogenase phenotypes in Iraq.

We attempted to characterize biochemically glucose-6-phosphate dehydrogenase (G6PD) variants in Iraqi individuals. Thus 758 healthy Iraqi males aged 18-60 years were randomly selected and 46 (6.1%) were G6PD deficient. Although the predominant non-deficient G6PD phenotype was G6PD B (92.6%), G6PD A+ was found in polymorphic frequency (1.3%). In the deficient group, 31 cases were fully characterized, including 17 cases with features consistent with G6PD Mediterranean variant, while 12 had other biochemical features and were labelled as non-Mediterranean variant. The remaining two deficient cases were characterized as G6PD A- variant. The presence of a significant number of non-Mediterranean variant was unexpected and may be related to the more heterogeneous background of the Iraqi people.

Adolescent↗