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
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
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
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
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
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.
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.
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.
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.
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.