Glucose-6-phosphate dehydrogenase(G6PD) is a cytoplasmic enzyme with an important function in cell oxidative damage prevention.Erythrocytes have a predisposition towards oxidized environments due to their lack of mito...Glucose-6-phosphate dehydrogenase(G6PD) is a cytoplasmic enzyme with an important function in cell oxidative damage prevention.Erythrocytes have a predisposition towards oxidized environments due to their lack of mitochondria,giving G6 PD a major role in its stability.G6 PD deficiency(G6PDd) is the most common enzyme deficiency in humans:it affects approximately 400 million individuals worldwide.The overall G6 PDd allele frequency across malaria endemic countries is estimated to be 8%.corresponding to approximately 220 million males and 133 million females.However,there are no reports on the prevalence of G6 PDd in Andean communities where bartonellosis is prevalent.展开更多
Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and mole...Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional methods.To this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese family.Methods:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype diagnosis.Novel compound heterozygous variants of the GPI gene,c.174C>A(p.Asn58Lys)and c.1538G>T(p.Trp513Leu),were identified using whole-exome and Sanger sequencing.The AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI structure.Results:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and 14.This study identified novel compound heterozygous variants associated with GPI deficiency.These pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino acids.Conclusion:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.展开更多
The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4...The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2―13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen inde-pendent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.展开更多
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and ...Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and since then various investigations have been conducted across country. The objective of this work was to study the prevalence of G6PD deficiency in different ethnic, caste and linguistic groups of Indian population. A systematic search of published literature was undertaken and the wide variability of G6PD deficiency has been observed ranging from 0% - 30.7% among the different caste, ethnic, and linguistic groups of India. It was observed that the incidence of G6PD deficiency was found to be considerably higher among the tribes (9.86%) as compared to other ethnic groups (7.34%) and significantly higher in males as compared to females.展开更多
Objective:To investigate 4 combinations of mutations responsible for glucose-6—phosphate dehydrogenase(G6PD) deficiency in a rural community of Burkina Faso,a malaria endemic country.Methods:Two hundred individuals i...Objective:To investigate 4 combinations of mutations responsible for glucose-6—phosphate dehydrogenase(G6PD) deficiency in a rural community of Burkina Faso,a malaria endemic country.Methods:Two hundred individuals in a rural community were genotyped for the mutations A376 G.G202A,A542 T,G680T and T968 C using TaqMan single nucleotide polymorphism assays and polymerase chain reaction followed by restriction fragment length polymorphism.Results:The prevalence of the G6 PD deficiency was 9.5%,in the study population.It was significantly higher in men compared to women(14.23%vs 6.0%,P=0.049).The 202A/376 G G6PD Awas the only deficient variant detected.Plasmodium falciparum asymptomatic parasitemia was significantly higher among the C6PD-non—deficient persons compared to the G6PD-deficient(P<0.001).The asymptomatic parasitemia was also significantly higher among G(SPI) nondeficient compared to C6PD—heterozygous females(P<0.001).Conclusions:This study showed that the G6 PD A- variant associated with protection against asymptomatic malaria in Burkina Faso is probably the most common deficient variant.展开更多
[Objective] The aim of this study was to perform genome-wide analysis of glucose-6-phosphate dehydrogenase（G6PDH） and reveal its evolution in Eucalyptus grandsis.[Method] The gene character,protein sequence and phyl...[Objective] The aim of this study was to perform genome-wide analysis of glucose-6-phosphate dehydrogenase（G6PDH） and reveal its evolution in Eucalyptus grandsis.[Method] The gene character,protein sequence and phylogenetic tree of G6PDH gene were analyzed by BLAST and other bioinformatics software within Eucalyptus grandsis whole genome database.[Result] Six G6PDH genes,including one cytomic type and five plastids,were detected in the E.grandsis genome.All the G6PDHs have conserved motifs of motif 1,motif 2,motif 3,motif 7,motif 9 and motif 11.Furthermore,promoter sequences of all E.grandsis G6PDH contain TATA box,enhancer,light-responsive,hormone-responsive and stress-responsive regulatory elements.[Conclusion] This study provided reference for the further revealing molecular function of E.grandsis G6PDH gene family展开更多
A 1 207 bp cDNA fragment (PsG6PDH) was amplified by RT-PCR from cold-induced total RNA of the freez- ing-tolerant P. Suaveolens, using primers based on the highly conserved region of published plant glucose-6-phospha...A 1 207 bp cDNA fragment (PsG6PDH) was amplified by RT-PCR from cold-induced total RNA of the freez- ing-tolerant P. Suaveolens, using primers based on the highly conserved region of published plant glucose-6-phosphate dehydro- genase (G6PDH) genes. The sequence analysis showed that PsG6PDH coding region had 1 101 bp and encoded 367 predicted amino acid residues. Moreover, the nucleotide sequence of PsG6PDH showed 83%, 82%, 79%, 79% and 78% identity, and the derived amino acid sequence shared 44.2%, 44.7%, 42.0%, 40.5% and 43.9% identity with those of the Solanum tuberosum, Nicotiana ta- bacum, Triticum aestivum, Oryza sativa and Arabidopsis thaliana, respectively. The results show that PsG6PDH is a new member of G6PDH gene family and belongs to the cytosolic G6PDH gene. This is the first report on cloning of the G6PDH gene from woody plants.展开更多
Hepatocellular carcinoma(HCC)is the third most common cause of cancer-related death worldwide with high mortality.The incidence of HCC is increasing in China.Abnormal activation of glucose-6-phosphate dehydrogenase(G6...Hepatocellular carcinoma(HCC)is the third most common cause of cancer-related death worldwide with high mortality.The incidence of HCC is increasing in China.Abnormal activation of glucose-6-phosphate dehydrogenase(G6 PD)exists in all malignant tumors,including HCC,and is closely related to the development of HCC.In addition,the differential expression of non-coding RNAs is closely related to the development of HCC.This systematic review focuses on the relationship between G6 PD,HCC,and noncoding RNA,which form the basis for the circ RNA/mi RNA/G6 PD axis in HCC.The circular RNA(circ RNA)/micro RNA(mi RNA)/G6 PD axis is involved in development of HCC.We proposed that non-coding RNA molecules of the circ RNA/mi RNA/G6 PD axis may be novel biomarkers for the pathological diagnosis,prognosis,and targeted therapy of HCC.展开更多
Glucose-6-phosphate dehydrogenase has been purified from pigeon pea (Cajanus cajan) seeds and subjected to characterization. The enzyme was purified 123.69 fold with a yield of 21.37% by ammonium sulphate fractionatio...Glucose-6-phosphate dehydrogenase has been purified from pigeon pea (Cajanus cajan) seeds and subjected to characterization. The enzyme was purified 123.69 fold with a yield of 21.37% by ammonium sulphate fractionation, PEG-4000 precipitation, CM cellulose column chromatography and DEAE cellulose column chromatography. The catalytically active enzyme is a dimer of 113 KDa with a subunit molecular weight of 55 KDa. Thermal inactivation of enzyme follows first order kinetics at 30°C and 40°C with half life of 6 and 1.5 min respectively. Km value for glucose-6-phosphate and NADP+ was found to be 2.68 mM and 0.75 mM respectively whereas Vmax value was found to be 0.11 U/mL and 0.13 U/mL respectively. The enzyme shows more affinity towards NADP+ than glucose-6-phosphate. The pKa value was found to be 10.41 indicating that the amino acid residue at active site might be lysine. The enzyme exhibited maximum catalytic activity at pH 8.2. The enzyme was found to be highly thermosensitive with gradual loss of activity above 30°C temperature.展开更多
The present study was designed to explore the possible mechanism of obesity associated metabolic syndrome. 150 subjects (120 men and 30 women) in the age-group of 17 - 26 years were studied. Body Mass Index and Waist-...The present study was designed to explore the possible mechanism of obesity associated metabolic syndrome. 150 subjects (120 men and 30 women) in the age-group of 17 - 26 years were studied. Body Mass Index and Waist-to-Hip Ratio were taken as a measure of generalized obesity and abdominal adiposity. The serum concentration of glucose-6-phosphate dehydrogenase increased with increasing levels of Body Mass Index and was found to be significant in obese subjects (Body Mass Index ≥ 30.0 kg/m2) and more so in the obese subjects with abdominal adiposity (p = 0.002) as compared to normal-weight subjects. Karl Pearson coefficient of correlation revealed a significant positive correlation of glucose-6-phosphate dehydrogenase with Body Mass Index (r = 0.499;p < 0.001) and malondialdehyde (a biomarker of oxidative stress) (r = 0.736;p < 0.001) but inverse correlation with adiponectin (r = -0.524;p < 0.001). Thus, we conclude that increased expression of glucose-6-phosphate dehydrogenase in obese subjects (more if it is associated with abdominal adiposity) might mediate the onset of obesity associated metabolic disorders by increasing oxidative stress.展开更多
Salt stress negatively affects plant growth,and the fungal endophyte Epichloëgansuensis increases the tolerance of its host grass species,Achnatherum inebrians,to abiotic stresses.In this work,we first evaluated ...Salt stress negatively affects plant growth,and the fungal endophyte Epichloëgansuensis increases the tolerance of its host grass species,Achnatherum inebrians,to abiotic stresses.In this work,we first evaluated the effects of E.gansuensis on glucose-6-phosphate dehydrogenase(G6PDH)and plasma membrane(PM)H^(+)-ATPase activity of Achnatherum inebrians plants under varying NaCl concentrations.Our results showed that the presence of E.gansuensis increased G6PDH,PMH^(+)-ATPase,superoxide dismutase and catalase activity to decrease O2•^(–),H_(2)O_(2)and Na^(+)contents in A.inebrians under NaCl stress,resulting in enhanced salt tolerance.In addition,the PM NADPH oxidase activity and NADPH/NADP+ratios were all lower in A.inebrians with E.ganusensis plants than A.inebrians plants without this endophyte under NaCl stress.In conclusion,E.gansuensis has a positive role in improving host grass yield under NaCl stress by enhancing the activity of G6PDH and PM H^(+)-ATPase to decrease ROS content.This provides a new way for the selection of stress-resistant and high-quality forage varieties by the use of systemic fungal endophytes.展开更多
The metabolic syndrome, one of the most common clinical conditions in recent times, represents a combination of cardiometabolic risk determinants, including central obesity, glucose intolerance, insulin resistance, dy...The metabolic syndrome, one of the most common clinical conditions in recent times, represents a combination of cardiometabolic risk determinants, including central obesity, glucose intolerance, insulin resistance, dyslipidemia, non-alcoholic fatty liver disease and hypertension. Prevalence of the metabolic syndrome is rapidly increasing worldwide as a consequence of common overnutrition and consequent obesity. Although a unifying picture of the pathomechanism is still missing, the key role of the pre-receptor glucocorticoid activation has emerged recently. Local glucocorticoid activation is catalyzed by a triad composed of glucose-6-phosphate-transporter, hexose-6-phosphate dehydrogenase and 11β-hydroxysteroid dehydrogenase type 1 in the endoplasmic reticulum. The elements of this system can be found in various cell types, including adipocytes and hepatocytes. While the contribution of glucocorticoid activation in adipose tissue to the pathomechanism of the metabolic syndrome has been well established, the relative importance of the hepatic process is less understood. This review summarizes the available data on the role of the hepatic triad and its role in the metabolic syndrome, by confronting experimental findings with clinical observations.展开更多
Glucose-6-phosphate dehydrogenase (G6PDH,EC 1.1.1.49) is the first and main regulated enzyme of oxidative pentose phosphate pathway (OPPP),catalyzing the conversion of glucose-6-phosphate to 6-phospho-gluconolactone a...Glucose-6-phosphate dehydrogenase (G6PDH,EC 1.1.1.49) is the first and main regulated enzyme of oxidative pentose phosphate pathway (OPPP),catalyzing the conversion of glucose-6-phosphate to 6-phospho-gluconolactone and playing important roles in the growth and development of plants. It is preciously reported that the enhancement of freezing resistance of Populus suaveolenscuttings is clear related to the distinct increase in cytosolic G6PDH activity. Here,a 1697 bp cDNA fragment (PsG6PDH) is amplified by RT-PCR from cold-induced total RNA of the freezing-tolerant P. suaveolens. A sequence analysis showed that PsG6PDH coding region had 1 530 bp and encoded 510 predicted amino acid residues. Genomic Southern analysis revealed that the isoform is encoded by a few copies of the gene in the poplar genome. The cloned gene PsG6PDHis cloned into binary vector pBI121 and used to transform tobacco. PCR and Southern blotting results verified integration of this gene into the genome of tobacco. Moreover,cold treatment experiments and membrane defense enzymeactivity analysis confirmed that overexpression of the PsG6PDHgene could enhance the tolerance to cold or frigid stresses in transgenic plants.展开更多
BACKGROUND Neonatal hyperbilirubinemia is one of the common diseases of newborns that typically presents with yellow staining of skin,resulting in sequelaes such as hearing loss,motor and intellectual development diso...BACKGROUND Neonatal hyperbilirubinemia is one of the common diseases of newborns that typically presents with yellow staining of skin,resulting in sequelaes such as hearing loss,motor and intellectual development disorders,and even death.The pathogenic factors of neonatal hyperbilirubinemia are complex.Different cases of hyperbilirubinemia may have a single or mixed etiology.AIM To explore the etiological characteristics of severe hyperbilirubinemia in term newborns of eastern Guangdong of China.METHODS Term newborns with severe hyperbilirubinemia in one hospital from January 2012 to December 2021 were retrospectively analyzed.The etiology was determined according to the laboratory results and clinical manifestations.RESULTS Among 1602 term newborns with hyperbilirubinemia in eastern Guangdong of China,32.20%(580/1602)was severe hyperbilirubinemia.Among the causes of severe hyperbilirubinemia,neonatal hemolysis accounted for 15.17%,breast milk jaundice accounted for 12.09%,infection accounted for 10.17%,glucose-6-phosphate dehydrogenase(G6PD)deficiency accounted for 9.14%,and the coexistence of multiple etiologies accounted for 6.55%,unknown etiology accounted for 41.72%.ABO hemolysis and G6PD deficiency were the most common causes in the 20 cases with bilirubin encephalopathy.94 severe hyperbilirubinemia newborns were tested for uridine diphosphate glucuronosyl transferase 1A1(UGT1A1)*6 variant(rs4148323,c.211G>A,p.Arg71Gly),9 cases were 211 G to A homozygous variant,37 cases were 211 G to A heterozygous variant,and 48 cases were wild genotypes.CONCLUSION The main cause for severe hyperbilirubinemia and bilirubin encephalopathy in eastern Guangdong of China were the hemolytic disease of the newborns,G6PD deficiency and infection.UGT1A1 gene variant was also a high-risk factor for neonatal hyperbilirubinemia.Targeted prevention and treatment according to the etiology may reduce the occurrence of bilirubin encephalopathy and kernicterus.展开更多
Selecting oocytes that are most likely to develop is crucial for in vitro fertilization and animal cloning. Brilliant cresyl blue （BCB） staining has been used for oocyte selection in large animals, but its wider uti...Selecting oocytes that are most likely to develop is crucial for in vitro fertilization and animal cloning. Brilliant cresyl blue （BCB） staining has been used for oocyte selection in large animals, but its wider utility needs further evaluation. Mouse oocytes were divided into those stained （BCB＋） and those unstained （BCB-） according to their ooplasm BCB coloration. Chromatin configurations, cumulus cell apoptosis, cytoplasmic maturity and developmental competence were compared between the BCB＋ and BCB- oocytes. The effects of oocyte diameter, sexual maturity and gonadotropin stimulation on the competence of BCB＋ oocytes were also analyzed. In the large- and medium-size groups, BCB＋ oocytes were larger and showed more surrounded nucleoli （SN） chromatin configurations and higher frequencies of early atresia, and they also gained better cytoplasmic maturity （determined as the intracellular GSH level and pattern of mitochondrial distribution） and higher developmental potential after in vitro maturation （IVM） than the BCB-oocytes. Adult mice produced more BCB＋ oocytes with higher competence than the prepubertal mice when not primed with PMSG. PMSG priming increased both proportion and developmental potency of BCB＋ oocytes. The BCB＋ oocytes in the large-size group showed more SN chromatin configurations, better cytoplasmic maturity and higher developmental potential than their counterparts in the medium-size group. It is concluded that BCB staining can be used as an efficient method for oocyte selection, but that the competence of the BCB＋ oocytes may vary with oocyte diameter, animal sexual maturity and gonadotropin stimulation. Taken together, the series of criteria described here would allow for better choices in selecting oocytes for better development.展开更多
Objective:To collect comprehensive information about the features of favic patients in Ahvaz (Capital of Khouzestan,Iran) and analyze the extent of the differences with their corresponding in other regions.Methods:A t...Objective:To collect comprehensive information about the features of favic patients in Ahvaz (Capital of Khouzestan,Iran) and analyze the extent of the differences with their corresponding in other regions.Methods:A total of 103 patients with acute hemolysis admitted to pediatric division of Abouzar Hospital located in the city of Ahvaz,Iran during 21st of June 2008 to 20th of June 2009 were analyzed retrospectively.Results:95.14% of the patients had favism while 4.86% of them underwent hemolysis due to other reasons.These patients were male(68.93%) and female children(31.06%) admitted mostly during the spring season.The three main symptoms were urine discoloration,jaundice and vomiting.At the admission time,the main hematologic findings were as follows:G6PD sufficient status(45.63%),G6PD deficient status(54.36%) and hemoglobin concentration:2.5-11.8(mean±SD:6.45±2.12) g/dL.Conclusions:In conclusion,Ahvaz was determined as a black zone for favism in which the disease can be considered a life threatening health problem.Moreover,slight differences were observed in the three main symptoms compared with favic patients in other regions.展开更多
Infantile pyknocytosis(IP) is a rare, self-limited neonatal haemolytic anaemia that may require multiple blood transfusions. Only a little more than 50 cases have been reported in the medical literature, and the great...Infantile pyknocytosis(IP) is a rare, self-limited neonatal haemolytic anaemia that may require multiple blood transfusions. Only a little more than 50 cases have been reported in the medical literature, and the great majority of them concerns term infants. The etiology of IP is not well understood; most likely it results from a transient extra-corpuscular factor, whose nature is unknown, transmitted from mother to child or, alternatively, from a deficiency of an anti-oxidative agent. We report the case of two preterm twins, one of which suffered from IP and developed severe anaemia at age 2 wk, while the other was unaffected. Although no specific agent was identified as the cause of anaemia and IP, we speculate that the transmission of an agent from mother to child was unlikely, as only twin one suffered from IP. Smelly greenish diarrhoea occurred just before the presentation of IP, suggesting that the same agent led to both the diarrhoea and the oxidative injury. Because IP may remain underdiagnosed, it should be considered in cases of early unexplained severe hemolytic anemia.展开更多
AIM:To study frequency of blood groups,prevalence of sickle-cell anemia trait and glucose-6-phosphate dehydrogenase deficiency(G6PD),among consanguineous Yansi tribe.METHODS:A total of 525 blood samples were collected...AIM:To study frequency of blood groups,prevalence of sickle-cell anemia trait and glucose-6-phosphate dehydrogenase deficiency(G6PD),among consanguineous Yansi tribe.METHODS:A total of 525 blood samples were collected,of which 256 among the Yansi population,and269 for the unrelated control group in the Bandunduprovince of Democratic Republic of Congo.Blood group antigens were determined in the following systems:ABO,Rh,Kell,Duffy,Kidd and MNS.Blood grouping and extended phenotype tests were performed according to standard immunohematological procedures.Spot tests and tandem mass spectrometry were used respectively for the assessment of G6PD and sickle-cell anemia trait.RESULTS:The frequency of ABO phenotypes conformed to the following order O>A>B>AB with notably 62.5%,23.8%,12.1%and 1.6%for the Yansi,and 54.6%,27.5%,14.1%and 3.7%for the unrelated control group,respectively(P=0.19).As for the Rh phenotypes,the most frequent were cc D.ee,cc D.Ee,Cc D.ee,corresponding to 71.5%,12.1%and 12.1%for the Yansi,and 70.6%,15.6%and 8.2%,for the unrelated control group(P=0.27).The frequency of MN and Ss phenotypes were statistically different between groups(P=0.0021 and P=0.0006).G6PD was observed in 11.3%of subjects in the Yansi group,and in 12.4%of controls(P=0.74).The sickle-cell anemia trait was present in 22.4%of Yansi subjects and 17.8%in the control group(P=0.24).Miscarriages and deaths in young age were more common among Yansi people.CONCLUSION:This study shows a significant difference in MNS blood group distribution between the Yansi tribe and a control population.The distribution of other blood groups and the prevalence of hemoglobinopathies did not differ in the Yansi tribe.展开更多
Background::The elimination of Plasmodium vivax malaria requires 8-aminoquinolines,which are contraindicated in patients with glucose-6-phosphate dehydrogenase(G6PD)deficiency due to the risk of acute haemolytic anaem...Background::The elimination of Plasmodium vivax malaria requires 8-aminoquinolines,which are contraindicated in patients with glucose-6-phosphate dehydrogenase(G6PD)deficiency due to the risk of acute haemolytic anaemia.Several point-of-care devices have been developed to detect G6PD deficiency.The objective of the present study was to evaluate the performance of two of these devices against G6PD genotypes in Mauritania.Methods::Outpatients were screened for G6PD deficiency using CareStart?rapid diagnostic test(RDT)and CareStart?G6PD biosensor in Nouakchott,Mauritania,in 2019-2020.African-type and Mediterranean-type G6PD genotypes commonly observed in Africa were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing.Qualitative variables were compared using Fisher’s exact test.Results::Of 323 patients(74 males and 249 females),5 males and 2 homozygous females had the African-type A-genotype:A-(202)in 3 males and 2 females and G6PD A-(968)in 2 males.Among heterozygous females,13 carried G6PD A-(202),12 G6PD A-(968),and 3 G6PD A-(542)variants.None had the Mediterranean-type G6PD genotype.Eight had a positive G6PD RDT result,including all 7 hemizygous males and homozygous females with A-or A-A-(0.12 to 2.34 IU/g haemoglobin,according to G6PD biosensor),but RDT performed poorly(sensitivity,11.1%at the cutoff level of<30%)and yielded many false negative tests.Thirty-seven(50.0%)males and 141(56.6%)females were anaemic.The adjusted median values of G6PD activity were 5.72 and 5.34 IU/g haemoglobin in non-anaemic males(n=35)and non-anaemic males and females(n=130)with normal G6PD genotypes using G6PD biosensor,respectively.Based on the adjusted median of 5.34 IU/g haemoglobin,the performance of G6PD biosensor against genotyping was as follows:at 30%cut-off,the sensitivity and specificity were 85.7%and 91.7%,respectively,and at 80%cut-off,the sensitivity was 100%while the specificity was 64.9%.Conclusions::Although this pilot study supports the utility of biosensor to screen for G6PD deficiency in patients,further investigation in parallel with spectrophotometry is required to promote and validate a more extensive use of this point-of-care device in areas where P.vivax is highly prevalent in Mauritania.展开更多
Background:The extrahepatic manifestations of hepatitis E virus(HEV)infection include hemolytic anemia.However,the clinical characteristics of HEV-induced hemolytic anemia have been only sporadically reported in case ...Background:The extrahepatic manifestations of hepatitis E virus(HEV)infection include hemolytic anemia.However,the clinical characteristics of HEV-induced hemolytic anemia have been only sporadically reported in case reports,and there is a scarcity of relevant systematic reviews.The aim of the current study was to analyze and summarize the clinical characteristics of patients diagnosed with HEV-induced hemolytic anemia.Methods:This study included 1 patient diagnosed with HEV-induced hemolytic anemia who was admitted to our hospital and 19 additional patients identified through the available literature.Results:Of the 20 patients included in this study,the majorities were from China and India(12 and 6 cases,respectively);furthermore,13 of them were men and 7 were women,with an average age of 35(16–56)years.The highest total bilirubin level was 646(452–913)μmol/L,highest alanine aminotransferase level was 1335(708–2798)IU/L,and lowest hemoglobin level was 6.02.0 g/dL.Additionally,10 patients(50.0%,10/20)underwent the glucose-6-phosphate dehydrogenase(G6PD)activity test,and all of them were diagnosed with G6PD deficiency(100.0%,10/10).Finally,18 patients(90.0%)recovered and 2 died(10.0%)after treatment.Conclusions:Most of the patients with HEV-induced hemolytic anemia recovered with treatment.Acute HEV infection that causes hemolytic anemia is strongly associated with the G6PD status of the patients.展开更多
文摘Glucose-6-phosphate dehydrogenase(G6PD) is a cytoplasmic enzyme with an important function in cell oxidative damage prevention.Erythrocytes have a predisposition towards oxidized environments due to their lack of mitochondria,giving G6 PD a major role in its stability.G6 PD deficiency(G6PDd) is the most common enzyme deficiency in humans:it affects approximately 400 million individuals worldwide.The overall G6 PDd allele frequency across malaria endemic countries is estimated to be 8%.corresponding to approximately 220 million males and 133 million females.However,there are no reports on the prevalence of G6 PDd in Andean communities where bartonellosis is prevalent.
文摘Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene variants.This disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional methods.To this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese family.Methods:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype diagnosis.Novel compound heterozygous variants of the GPI gene,c.174C>A(p.Asn58Lys)and c.1538G>T(p.Trp513Leu),were identified using whole-exome and Sanger sequencing.The AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI structure.Results:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and 14.This study identified novel compound heterozygous variants associated with GPI deficiency.These pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino acids.Conclusion:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.
基金Supported by the National Natural Science Foundation of China (Grant No. 30460049)
文摘The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2―13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen inde-pendent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.
文摘Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and since then various investigations have been conducted across country. The objective of this work was to study the prevalence of G6PD deficiency in different ethnic, caste and linguistic groups of Indian population. A systematic search of published literature was undertaken and the wide variability of G6PD deficiency has been observed ranging from 0% - 30.7% among the different caste, ethnic, and linguistic groups of India. It was observed that the incidence of G6PD deficiency was found to be considerably higher among the tribes (9.86%) as compared to other ethnic groups (7.34%) and significantly higher in males as compared to females.
基金Supported by West African Economic and Monetary Union(WAEMU)through the Programme d'appui et de developpement des centres d'excellence regionaux.Grant No.PACERⅡ
文摘Objective:To investigate 4 combinations of mutations responsible for glucose-6—phosphate dehydrogenase(G6PD) deficiency in a rural community of Burkina Faso,a malaria endemic country.Methods:Two hundred individuals in a rural community were genotyped for the mutations A376 G.G202A,A542 T,G680T and T968 C using TaqMan single nucleotide polymorphism assays and polymerase chain reaction followed by restriction fragment length polymorphism.Results:The prevalence of the G6 PD deficiency was 9.5%,in the study population.It was significantly higher in men compared to women(14.23%vs 6.0%,P=0.049).The 202A/376 G G6PD Awas the only deficient variant detected.Plasmodium falciparum asymptomatic parasitemia was significantly higher among the C6PD-non—deficient persons compared to the G6PD-deficient(P<0.001).The asymptomatic parasitemia was also significantly higher among G(SPI) nondeficient compared to C6PD—heterozygous females(P<0.001).Conclusions:This study showed that the G6 PD A- variant associated with protection against asymptomatic malaria in Burkina Faso is probably the most common deficient variant.
基金Supported by Seeding Raising Project from Guangdong Provincial Department(LYM10040)Open Research Project of Key Laboratory for Genetics and Breeding in Forest Trees and Ornamental Plants,MOE,Beijing Forestry University(FOP2010-4)~~
文摘[Objective] The aim of this study was to perform genome-wide analysis of glucose-6-phosphate dehydrogenase（G6PDH） and reveal its evolution in Eucalyptus grandsis.[Method] The gene character,protein sequence and phylogenetic tree of G6PDH gene were analyzed by BLAST and other bioinformatics software within Eucalyptus grandsis whole genome database.[Result] Six G6PDH genes,including one cytomic type and five plastids,were detected in the E.grandsis genome.All the G6PDHs have conserved motifs of motif 1,motif 2,motif 3,motif 7,motif 9 and motif 11.Furthermore,promoter sequences of all E.grandsis G6PDH contain TATA box,enhancer,light-responsive,hormone-responsive and stress-responsive regulatory elements.[Conclusion] This study provided reference for the further revealing molecular function of E.grandsis G6PDH gene family
基金Supported by the National Natural Science Foundation of China (Grant No. 30271093)
文摘A 1 207 bp cDNA fragment (PsG6PDH) was amplified by RT-PCR from cold-induced total RNA of the freez- ing-tolerant P. Suaveolens, using primers based on the highly conserved region of published plant glucose-6-phosphate dehydro- genase (G6PDH) genes. The sequence analysis showed that PsG6PDH coding region had 1 101 bp and encoded 367 predicted amino acid residues. Moreover, the nucleotide sequence of PsG6PDH showed 83%, 82%, 79%, 79% and 78% identity, and the derived amino acid sequence shared 44.2%, 44.7%, 42.0%, 40.5% and 43.9% identity with those of the Solanum tuberosum, Nicotiana ta- bacum, Triticum aestivum, Oryza sativa and Arabidopsis thaliana, respectively. The results show that PsG6PDH is a new member of G6PDH gene family and belongs to the cytosolic G6PDH gene. This is the first report on cloning of the G6PDH gene from woody plants.
基金supported in part by grants from the National Natural Sciences Foundation of China(81872883)2019 High-level Pre-research Project of Zhejiang Shuren University(KXJ1218607)。
文摘Hepatocellular carcinoma(HCC)is the third most common cause of cancer-related death worldwide with high mortality.The incidence of HCC is increasing in China.Abnormal activation of glucose-6-phosphate dehydrogenase(G6 PD)exists in all malignant tumors,including HCC,and is closely related to the development of HCC.In addition,the differential expression of non-coding RNAs is closely related to the development of HCC.This systematic review focuses on the relationship between G6 PD,HCC,and noncoding RNA,which form the basis for the circ RNA/mi RNA/G6 PD axis in HCC.The circular RNA(circ RNA)/micro RNA(mi RNA)/G6 PD axis is involved in development of HCC.We proposed that non-coding RNA molecules of the circ RNA/mi RNA/G6 PD axis may be novel biomarkers for the pathological diagnosis,prognosis,and targeted therapy of HCC.
文摘Glucose-6-phosphate dehydrogenase has been purified from pigeon pea (Cajanus cajan) seeds and subjected to characterization. The enzyme was purified 123.69 fold with a yield of 21.37% by ammonium sulphate fractionation, PEG-4000 precipitation, CM cellulose column chromatography and DEAE cellulose column chromatography. The catalytically active enzyme is a dimer of 113 KDa with a subunit molecular weight of 55 KDa. Thermal inactivation of enzyme follows first order kinetics at 30°C and 40°C with half life of 6 and 1.5 min respectively. Km value for glucose-6-phosphate and NADP+ was found to be 2.68 mM and 0.75 mM respectively whereas Vmax value was found to be 0.11 U/mL and 0.13 U/mL respectively. The enzyme shows more affinity towards NADP+ than glucose-6-phosphate. The pKa value was found to be 10.41 indicating that the amino acid residue at active site might be lysine. The enzyme exhibited maximum catalytic activity at pH 8.2. The enzyme was found to be highly thermosensitive with gradual loss of activity above 30°C temperature.
文摘The present study was designed to explore the possible mechanism of obesity associated metabolic syndrome. 150 subjects (120 men and 30 women) in the age-group of 17 - 26 years were studied. Body Mass Index and Waist-to-Hip Ratio were taken as a measure of generalized obesity and abdominal adiposity. The serum concentration of glucose-6-phosphate dehydrogenase increased with increasing levels of Body Mass Index and was found to be significant in obese subjects (Body Mass Index ≥ 30.0 kg/m2) and more so in the obese subjects with abdominal adiposity (p = 0.002) as compared to normal-weight subjects. Karl Pearson coefficient of correlation revealed a significant positive correlation of glucose-6-phosphate dehydrogenase with Body Mass Index (r = 0.499;p < 0.001) and malondialdehyde (a biomarker of oxidative stress) (r = 0.736;p < 0.001) but inverse correlation with adiponectin (r = -0.524;p < 0.001). Thus, we conclude that increased expression of glucose-6-phosphate dehydrogenase in obese subjects (more if it is associated with abdominal adiposity) might mediate the onset of obesity associated metabolic disorders by increasing oxidative stress.
基金the National Basic Research Program of China(2014CB138702)the Joint Fund of the National Natural Science Foundation of China and the Karst Science Research Center of Guizhou Province(U1812401)+4 种基金Changjiang Scholars and Innovative Research Team in University(IRT_17R50)Lanzhou University“Double First-Class”guiding special project-team construction fund-scientific research start-up fee standard(561119206)the National Natural Science Foundation of China(31901378)Guizhou Education Department Program(Qianjiaohe-KY-2018-130)Major Science and Technology Sub-project of Guizhou Science and Technology Program(Qiankehe-2019-3001-2).
文摘Salt stress negatively affects plant growth,and the fungal endophyte Epichloëgansuensis increases the tolerance of its host grass species,Achnatherum inebrians,to abiotic stresses.In this work,we first evaluated the effects of E.gansuensis on glucose-6-phosphate dehydrogenase(G6PDH)and plasma membrane(PM)H^(+)-ATPase activity of Achnatherum inebrians plants under varying NaCl concentrations.Our results showed that the presence of E.gansuensis increased G6PDH,PMH^(+)-ATPase,superoxide dismutase and catalase activity to decrease O2•^(–),H_(2)O_(2)and Na^(+)contents in A.inebrians under NaCl stress,resulting in enhanced salt tolerance.In addition,the PM NADPH oxidase activity and NADPH/NADP+ratios were all lower in A.inebrians with E.ganusensis plants than A.inebrians plants without this endophyte under NaCl stress.In conclusion,E.gansuensis has a positive role in improving host grass yield under NaCl stress by enhancing the activity of G6PDH and PM H^(+)-ATPase to decrease ROS content.This provides a new way for the selection of stress-resistant and high-quality forage varieties by the use of systemic fungal endophytes.
基金Supported by the János Bolyai Research Scholarship of the Hungarian Academy of Sciences to Csala M
文摘The metabolic syndrome, one of the most common clinical conditions in recent times, represents a combination of cardiometabolic risk determinants, including central obesity, glucose intolerance, insulin resistance, dyslipidemia, non-alcoholic fatty liver disease and hypertension. Prevalence of the metabolic syndrome is rapidly increasing worldwide as a consequence of common overnutrition and consequent obesity. Although a unifying picture of the pathomechanism is still missing, the key role of the pre-receptor glucocorticoid activation has emerged recently. Local glucocorticoid activation is catalyzed by a triad composed of glucose-6-phosphate-transporter, hexose-6-phosphate dehydrogenase and 11β-hydroxysteroid dehydrogenase type 1 in the endoplasmic reticulum. The elements of this system can be found in various cell types, including adipocytes and hepatocytes. While the contribution of glucocorticoid activation in adipose tissue to the pathomechanism of the metabolic syndrome has been well established, the relative importance of the hepatic process is less understood. This review summarizes the available data on the role of the hepatic triad and its role in the metabolic syndrome, by confronting experimental findings with clinical observations.
基金supported by the National Natural Science Foundation of China (No .30271093)
文摘Glucose-6-phosphate dehydrogenase (G6PDH,EC 1.1.1.49) is the first and main regulated enzyme of oxidative pentose phosphate pathway (OPPP),catalyzing the conversion of glucose-6-phosphate to 6-phospho-gluconolactone and playing important roles in the growth and development of plants. It is preciously reported that the enhancement of freezing resistance of Populus suaveolenscuttings is clear related to the distinct increase in cytosolic G6PDH activity. Here,a 1697 bp cDNA fragment (PsG6PDH) is amplified by RT-PCR from cold-induced total RNA of the freezing-tolerant P. suaveolens. A sequence analysis showed that PsG6PDH coding region had 1 530 bp and encoded 510 predicted amino acid residues. Genomic Southern analysis revealed that the isoform is encoded by a few copies of the gene in the poplar genome. The cloned gene PsG6PDHis cloned into binary vector pBI121 and used to transform tobacco. PCR and Southern blotting results verified integration of this gene into the genome of tobacco. Moreover,cold treatment experiments and membrane defense enzymeactivity analysis confirmed that overexpression of the PsG6PDHgene could enhance the tolerance to cold or frigid stresses in transgenic plants.
基金Supported by the Natural Science Foundation of Guangdong Province,No.2016A030307035Special Research Plan 2019 of Chaozhou,No.2020xg01High-Level Development Plan of People’s Hospital of Yangjiang,No.G2020007.
文摘BACKGROUND Neonatal hyperbilirubinemia is one of the common diseases of newborns that typically presents with yellow staining of skin,resulting in sequelaes such as hearing loss,motor and intellectual development disorders,and even death.The pathogenic factors of neonatal hyperbilirubinemia are complex.Different cases of hyperbilirubinemia may have a single or mixed etiology.AIM To explore the etiological characteristics of severe hyperbilirubinemia in term newborns of eastern Guangdong of China.METHODS Term newborns with severe hyperbilirubinemia in one hospital from January 2012 to December 2021 were retrospectively analyzed.The etiology was determined according to the laboratory results and clinical manifestations.RESULTS Among 1602 term newborns with hyperbilirubinemia in eastern Guangdong of China,32.20%(580/1602)was severe hyperbilirubinemia.Among the causes of severe hyperbilirubinemia,neonatal hemolysis accounted for 15.17%,breast milk jaundice accounted for 12.09%,infection accounted for 10.17%,glucose-6-phosphate dehydrogenase(G6PD)deficiency accounted for 9.14%,and the coexistence of multiple etiologies accounted for 6.55%,unknown etiology accounted for 41.72%.ABO hemolysis and G6PD deficiency were the most common causes in the 20 cases with bilirubin encephalopathy.94 severe hyperbilirubinemia newborns were tested for uridine diphosphate glucuronosyl transferase 1A1(UGT1A1)*6 variant(rs4148323,c.211G>A,p.Arg71Gly),9 cases were 211 G to A homozygous variant,37 cases were 211 G to A heterozygous variant,and 48 cases were wild genotypes.CONCLUSION The main cause for severe hyperbilirubinemia and bilirubin encephalopathy in eastern Guangdong of China were the hemolytic disease of the newborns,G6PD deficiency and infection.UGT1A1 gene variant was also a high-risk factor for neonatal hyperbilirubinemia.Targeted prevention and treatment according to the etiology may reduce the occurrence of bilirubin encephalopathy and kernicterus.
基金Acknowledgments This study was supported by grants from the China National Natural Science Foundation （Nos. 30430530 and 30571337） and from the Momentous Research Project of the China Ministry of Science and Technology （No. 2006CB944003）.
文摘Selecting oocytes that are most likely to develop is crucial for in vitro fertilization and animal cloning. Brilliant cresyl blue （BCB） staining has been used for oocyte selection in large animals, but its wider utility needs further evaluation. Mouse oocytes were divided into those stained （BCB＋） and those unstained （BCB-） according to their ooplasm BCB coloration. Chromatin configurations, cumulus cell apoptosis, cytoplasmic maturity and developmental competence were compared between the BCB＋ and BCB- oocytes. The effects of oocyte diameter, sexual maturity and gonadotropin stimulation on the competence of BCB＋ oocytes were also analyzed. In the large- and medium-size groups, BCB＋ oocytes were larger and showed more surrounded nucleoli （SN） chromatin configurations and higher frequencies of early atresia, and they also gained better cytoplasmic maturity （determined as the intracellular GSH level and pattern of mitochondrial distribution） and higher developmental potential after in vitro maturation （IVM） than the BCB-oocytes. Adult mice produced more BCB＋ oocytes with higher competence than the prepubertal mice when not primed with PMSG. PMSG priming increased both proportion and developmental potency of BCB＋ oocytes. The BCB＋ oocytes in the large-size group showed more SN chromatin configurations, better cytoplasmic maturity and higher developmental potential than their counterparts in the medium-size group. It is concluded that BCB staining can be used as an efficient method for oocyte selection, but that the competence of the BCB＋ oocytes may vary with oocyte diameter, animal sexual maturity and gonadotropin stimulation. Taken together, the series of criteria described here would allow for better choices in selecting oocytes for better development.
文摘Objective:To collect comprehensive information about the features of favic patients in Ahvaz (Capital of Khouzestan,Iran) and analyze the extent of the differences with their corresponding in other regions.Methods:A total of 103 patients with acute hemolysis admitted to pediatric division of Abouzar Hospital located in the city of Ahvaz,Iran during 21st of June 2008 to 20th of June 2009 were analyzed retrospectively.Results:95.14% of the patients had favism while 4.86% of them underwent hemolysis due to other reasons.These patients were male(68.93%) and female children(31.06%) admitted mostly during the spring season.The three main symptoms were urine discoloration,jaundice and vomiting.At the admission time,the main hematologic findings were as follows:G6PD sufficient status(45.63%),G6PD deficient status(54.36%) and hemoglobin concentration:2.5-11.8(mean±SD:6.45±2.12) g/dL.Conclusions:In conclusion,Ahvaz was determined as a black zone for favism in which the disease can be considered a life threatening health problem.Moreover,slight differences were observed in the three main symptoms compared with favic patients in other regions.
文摘Infantile pyknocytosis(IP) is a rare, self-limited neonatal haemolytic anaemia that may require multiple blood transfusions. Only a little more than 50 cases have been reported in the medical literature, and the great majority of them concerns term infants. The etiology of IP is not well understood; most likely it results from a transient extra-corpuscular factor, whose nature is unknown, transmitted from mother to child or, alternatively, from a deficiency of an anti-oxidative agent. We report the case of two preterm twins, one of which suffered from IP and developed severe anaemia at age 2 wk, while the other was unaffected. Although no specific agent was identified as the cause of anaemia and IP, we speculate that the transmission of an agent from mother to child was unlikely, as only twin one suffered from IP. Smelly greenish diarrhoea occurred just before the presentation of IP, suggesting that the same agent led to both the diarrhoea and the oxidative injury. Because IP may remain underdiagnosed, it should be considered in cases of early unexplained severe hemolytic anemia.
文摘AIM:To study frequency of blood groups,prevalence of sickle-cell anemia trait and glucose-6-phosphate dehydrogenase deficiency(G6PD),among consanguineous Yansi tribe.METHODS:A total of 525 blood samples were collected,of which 256 among the Yansi population,and269 for the unrelated control group in the Bandunduprovince of Democratic Republic of Congo.Blood group antigens were determined in the following systems:ABO,Rh,Kell,Duffy,Kidd and MNS.Blood grouping and extended phenotype tests were performed according to standard immunohematological procedures.Spot tests and tandem mass spectrometry were used respectively for the assessment of G6PD and sickle-cell anemia trait.RESULTS:The frequency of ABO phenotypes conformed to the following order O>A>B>AB with notably 62.5%,23.8%,12.1%and 1.6%for the Yansi,and 54.6%,27.5%,14.1%and 3.7%for the unrelated control group,respectively(P=0.19).As for the Rh phenotypes,the most frequent were cc D.ee,cc D.Ee,Cc D.ee,corresponding to 71.5%,12.1%and 12.1%for the Yansi,and 70.6%,15.6%and 8.2%,for the unrelated control group(P=0.27).The frequency of MN and Ss phenotypes were statistically different between groups(P=0.0021 and P=0.0006).G6PD was observed in 11.3%of subjects in the Yansi group,and in 12.4%of controls(P=0.74).The sickle-cell anemia trait was present in 22.4%of Yansi subjects and 17.8%in the control group(P=0.24).Miscarriages and deaths in young age were more common among Yansi people.CONCLUSION:This study shows a significant difference in MNS blood group distribution between the Yansi tribe and a control population.The distribution of other blood groups and the prevalence of hemoglobinopathies did not differ in the Yansi tribe.
文摘Background::The elimination of Plasmodium vivax malaria requires 8-aminoquinolines,which are contraindicated in patients with glucose-6-phosphate dehydrogenase(G6PD)deficiency due to the risk of acute haemolytic anaemia.Several point-of-care devices have been developed to detect G6PD deficiency.The objective of the present study was to evaluate the performance of two of these devices against G6PD genotypes in Mauritania.Methods::Outpatients were screened for G6PD deficiency using CareStart?rapid diagnostic test(RDT)and CareStart?G6PD biosensor in Nouakchott,Mauritania,in 2019-2020.African-type and Mediterranean-type G6PD genotypes commonly observed in Africa were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing.Qualitative variables were compared using Fisher’s exact test.Results::Of 323 patients(74 males and 249 females),5 males and 2 homozygous females had the African-type A-genotype:A-(202)in 3 males and 2 females and G6PD A-(968)in 2 males.Among heterozygous females,13 carried G6PD A-(202),12 G6PD A-(968),and 3 G6PD A-(542)variants.None had the Mediterranean-type G6PD genotype.Eight had a positive G6PD RDT result,including all 7 hemizygous males and homozygous females with A-or A-A-(0.12 to 2.34 IU/g haemoglobin,according to G6PD biosensor),but RDT performed poorly(sensitivity,11.1%at the cutoff level of<30%)and yielded many false negative tests.Thirty-seven(50.0%)males and 141(56.6%)females were anaemic.The adjusted median values of G6PD activity were 5.72 and 5.34 IU/g haemoglobin in non-anaemic males(n=35)and non-anaemic males and females(n=130)with normal G6PD genotypes using G6PD biosensor,respectively.Based on the adjusted median of 5.34 IU/g haemoglobin,the performance of G6PD biosensor against genotyping was as follows:at 30%cut-off,the sensitivity and specificity were 85.7%and 91.7%,respectively,and at 80%cut-off,the sensitivity was 100%while the specificity was 64.9%.Conclusions::Although this pilot study supports the utility of biosensor to screen for G6PD deficiency in patients,further investigation in parallel with spectrophotometry is required to promote and validate a more extensive use of this point-of-care device in areas where P.vivax is highly prevalent in Mauritania.
基金supported by grants from Medical Scientific Research Foundation of Guangdong Province,China(grant numbers:A2019536 and B2021302).
文摘Background:The extrahepatic manifestations of hepatitis E virus(HEV)infection include hemolytic anemia.However,the clinical characteristics of HEV-induced hemolytic anemia have been only sporadically reported in case reports,and there is a scarcity of relevant systematic reviews.The aim of the current study was to analyze and summarize the clinical characteristics of patients diagnosed with HEV-induced hemolytic anemia.Methods:This study included 1 patient diagnosed with HEV-induced hemolytic anemia who was admitted to our hospital and 19 additional patients identified through the available literature.Results:Of the 20 patients included in this study,the majorities were from China and India(12 and 6 cases,respectively);furthermore,13 of them were men and 7 were women,with an average age of 35(16–56)years.The highest total bilirubin level was 646(452–913)μmol/L,highest alanine aminotransferase level was 1335(708–2798)IU/L,and lowest hemoglobin level was 6.02.0 g/dL.Additionally,10 patients(50.0%,10/20)underwent the glucose-6-phosphate dehydrogenase(G6PD)activity test,and all of them were diagnosed with G6PD deficiency(100.0%,10/10).Finally,18 patients(90.0%)recovered and 2 died(10.0%)after treatment.Conclusions:Most of the patients with HEV-induced hemolytic anemia recovered with treatment.Acute HEV infection that causes hemolytic anemia is strongly associated with the G6PD status of the patients.
