scholarly journals Co-inheritance of G6PD deficiency and 211 G to a variation of UGT1A1 in neonates with hyperbilirubinemia in eastern Guangdong

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jia-Xin Xu ◽  
Fen Lin ◽  
Zi-Kai Chen ◽  
Zhao-Yun Luo ◽  
Xiao-Fen Zhan ◽  
...  
Keyword(s):  
Bilirubin Level ◽  
G6pd Deficiency ◽  
Neonatal Hyperbilirubinemia ◽  
Control Group ◽  
Heterozygous Mutation ◽  
Homozygous Mutation ◽  
Wild Genotype ◽  
Related Disease ◽  
Flow Through ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which may manifest as neonatal hyperbilirubinemia, is the most prevalent erythrocytic enzyme-related disease in the world. Objective To investigate the association between neonatal hyperbilirubinemia and co-inheritance of G6PD deficiency and 211 G to A variation of UGT1A1 in Chaozhou city of eastern Guangdong province, the effects of G6PD deficiency and UGT1A1 gene variant on the bilirubin level were determined in neonates with hyperbilirubinemia. Method The activity of G6PD was assayed by an auto-bioanalyzer. PCR and flow-through hybridization were used to detect 14 common G6PD mutations in G6PD deficient neonates. 211 G to A variation of UGT1A1 was determined by PCR and sequencing. The data of neonatal bilirubin was collected and analyzed retrospectively. Results Seventy four cases of the 882 hyperbilirubinemia neonates were G6PD deficiency (8.39%) while 12 cases of the 585 non-hyperbilirubinemia neonates (control group) were G6PD deficiency (2.05%). The rate of G6PD deficiency in the hyperbilirubinemia group was higher than that of the control group. Moreover, the peak bilirubinin of the G6PD-deficient group of hyperbilirubinemia neonates was 334.43 ± 79.27 μmol/L, higher than that of the normal G6PD group of hyperbilirubinemia neonates (300.30 ± 68.62 μmol/L). The most common genotypes of G6PD deficiency were c.1376G > T and c.1388G > A, and the peak bilirubin of neonates with these two variants were 312.60 ± 71.81 μmol/L and 367.88 ± 75.79 μmol/L, respectively. The bilirubin level of c.1388G > A was significantly higher than that of c.1376G > T. Among the 74 hyperbilirubinemia neonates with G6PD deficiency, 6 cases were 211 G to A homozygous mutation (bilirubin levels 369.55 ± 84.51 μmol/L), 27 cases were 211 G to A heterozygous mutation (bilirubin levels 341.50 ± 63.21 μmol/L), and 41 cases were wild genotypes (bilirubin levels 324.63 ± 57.52 μmol/L). Conclusion The rate of G6PD deficiency in hyperbilirubinemia neonates was significantly higher than that of the non-hyperbilirubinemia neonates in Chaozhou. For the hyperbilirubinemia group, neonates with G6PD deficiency had a higher bilirubin level compared to those with normal G6PD. For hyperbilirubinemia neonates with G6PD deficiency, there was a declining trend of bilirubin levels among 211 G to A homozygous mutation, heterozygous mutation, and wild genotype, but there was no significance statistically among the three groups.

scholarly journals Co-Inheritance of G6PD Deficiency and 211 G to A Variation of UGT1A1 in Neonates with Hyperbilirubinemia In Eastern Guangdong

2021 ◽  
Author(s):  
Jia-Xin Xu ◽  
Fen Lin ◽  
Zi-Kai Chen ◽  
Zhao-Yun Luo ◽  
Xiao-Fen Zhan ◽  
...  
Keyword(s):  
Bilirubin Level ◽  
G6pd Deficiency ◽  
Neonatal Hyperbilirubinemia ◽  
Control Group ◽  
Heterozygous Mutation ◽  
Homozygous Mutation ◽  
Wild Genotype ◽  
Related Disease ◽  
Flow Through ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which may manifest as neonatal hyperbilirubinemia, is the most prevalent erythrocytic enzyme-related disease in the world.Objective: To investigate the association between neonatal hyperbilirubinemia and co-inheritance of G6PD deficiency and 211 G to A variation of UGT1A1 in Chaozhou city of eastern Guangdong province, the effects of G6PD deficiency and UGT1A1 gene variant on the bilirubin level were determined in neonates with hyperbilirubinemia.Method: The activity of G6PD was assayed by an auto-bioanalyzer. PCR and flow-through hybridization were used to detect 14 common G6PD mutations in G6PD deficient neonates. 211 G to A variation of UGT1A1 was determined by PCR and sequencing. The data of neonatal peak bilirubin was collected and analyzed retrospectively.Results: 74 cases of the 882 hyperbilirubinemia neonates were G6PD deficiency (8.39%) while 12 cases of the 585 non-hyperbilirubinemia neonates (control group) were G6PD deficiency (2.05%). The rate of G6PD deficiency in the hyperbilirubinemia group was higher than that of the control group. Moreover, the peak bilirubin in the G6PD-deficient group of hyperbilirubinemia neonates was 334.43±79.27μmol/L, higher than that of the normal G6PD group of hyperbilirubinemia neonates (300.30±68.62 μmol/L). The most common genotypes of G6PD deficiency were c.1376G>T and c.1388G>A, and the peak bilirubin of neonates with these two variants were 312.60±71.81μmol/L and 367.88±75.79 μmol/L, respectively. The bilirubin level of c.1388G>A was significantly higher than that of c.1376G>T. Among the 74 hyperbilirubinemia neonates with G6PD deficiency, 6 cases were 211 G to A homozygous mutation (bilirubin levels 369.55±84.51 μmol/L), 27 cases were 211 G to A heterozygous mutation (bilirubin levels 341.50±63.21 μmol/L), and 41 cases were wild genotypes (bilirubin levels 324.63±57.52 μmol/L). Conclusion: The rate of G6PD deficiency in hyperbilirubinemia neonates was significantly higher than that of the non-hyperbilirubinemia neonates in Chaozhou. For the hyperbilirubinemia group, neonates with G6PD deficiency had a higher bilirubin level compared to those with normal G6PD. For hyperbilirubinemia neonates with G6PD deficiency, there was a declining trend of bilirubin levels among 211 G to A homozygous mutation, heterozygous mutation, and wild genotype, but there was no significance statistically among the three groups.

Phototherapy for Neonatal Jaundice in Erythrocyte Glucose-6-Phosphate Dehydrogenase-Deficient Infants

PEDIATRICS ◽  
1977 ◽  
Vol 59 (6) ◽  
pp. 1023-1026
Author(s):  
K. L. Tan
Keyword(s):  
G6pd Deficiency ◽  
Neonatal Jaundice ◽  
Significant Rise ◽  
Neonatal Hyperbilirubinemia ◽  
Control Group ◽  
Rapid Rise ◽  
Glucose 6 Phosphate Dehydrogenase

The effectiveness of phototherapy in the management of neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase (G6PD)-deficient infants was studied. "Prophylactic" phototherapy for six continuous days commencing from the first day of life was effective in preventing a significant rise in bilirubin levels in 12 G6PD-deficient infants in the first three days, during which period a rapid rise was observed in a control group of G6PD-deficient infants. The hemoglobin levels on the first and eighth postnatal days were comparable in both groups. "Therapeutic" phototherapy proved equally effective in reducing bilirubin levels in 24 infants with nonhemolytic hyperbilirubinemia and an equal number of infants with hyperbilirubinemia associated with G6PD deficiency. Phototherapy was efficacious in the prevention or treatment of neonatal hyperbilirubinemia associated with G6PD deficiency; even if its use is prolonged it does not cause hemolysis in such infants.

scholarly journals Glucose-6-Phosphate Dehydrogenase (G6PD) Status in Neonatal Jaundice and its Relationship with Severity of Hyperbilirubinemia

1970 ◽  
Vol 4 (2) ◽  
pp. 71-76
Author(s):  
Nilufa Akhter ◽  
Noorzahan Begum ◽  
Waqar Ahmed Khan
Keyword(s):  
Bilirubin Level ◽  
G6pd Deficiency ◽  
Serum Bilirubin ◽  
Serum Bilirubin Level ◽  
Total Serum ◽  
Control Group ◽  
Term Neonates ◽  
Group A ◽  
The Difference ◽  
Enzyme Deficient

Background: G6PD deficiency is one of the common inherited enzymatic disorder associated with high incidence of severe neonatal hyperbilirubinemia. Objectives: To observe G6PD status in male, term neonates with jaundice and its correlation with serum level of bilirubin. Methods: This cross sectional study was conducted on 90 male, term neonates with jaundice, age ranged from 3 to 12 days (Group B) in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University (BSMMU) between July 2007 to June 2008. On the basis of total serum bilirubin (TSB) level, study group was further divided into B1(TSB <15mg/dl), B2(TSB 15-20mg/dl) and B3 (TSB>20mg/dl). For comparison age and sex matched 30 apparently healthy neonates (Group A) were also included in the study. Erythrocyte G6PD level was measured by Spectrophotometric method by using kit of Randox. Serum bilirubin level was measured by standard laboratory technique. For statistical analysis ANOVA, independent sample "t" test and Pearson's correlation coefficient test were performed as applicable by using SPSS windows version-12. Results: In this study, erythrocyte G6PD levels were significantly lower in moderate (p<0.01) and severe (p<0.001) hyperbilirubinemic group in comparison to that of control group . However, this enzyme level was lower in mild group compared to that of control but the difference was statistically non significant. Again, this enzyme levels were significantly lower in moderate (p<0.05) and severe (p<0.01) group than that of mild group and also between severe and moderate hyperbilirubinemic group (p<0.05). In this study, G6PD enzyme deficient were found in 1(3.33%) and 6(20%) subjects of group B2 and B3 respectively. Though, percentage of the subjects with enzyme deficiency were higher in severe group ( B3 ) compared to that of moderate group( B2 ) but the difference was statistically not significant. However, no enzyme deficient patient were found in control group (A) and mild hyperbilirubinemic group (B1). Serum bilirubin level showed significant (p<0.05) positive (r=+.429) correlation with erythrocyte G6PD level in control group (A). On the other hand, this level was negatively correlated with G6PD enzyme in groups B1 (r= -.127), B2 (r=-.120) and B3 ( r= -.671) but significant negative correlation in group B3 (p<0.01). Conclusion: The results of the study revealed that severity of hyperbilirubinemia depends on degree of G6PD deficiency. Therefore, early detection of this enzymopathy and close surveillance of the affected neonates may be important in reducing the complications of severe hyperbilirubinemia. Key words: Glucose-6-PD, Hyperbilirubinemia, Neonates DOI: 10.3329/jbsp.v4i2.4176 J Bangladesh Soc Physiol. 2009 Dec;4(2): 71-76  

Superiority of Oral Agar and Phototherapy Combination in the Treatment of Neonatal Hyperbilirubinemia

PEDIATRICS ◽  
1993 ◽  
Vol 92 (1) ◽  
pp. 86-89
Author(s):  
Suat Caglayan ◽  
Halil Candemir ◽  
Sadik Aksit ◽  
Savas Kansoy ◽  
Sezin Asik ◽  
...  
Keyword(s):  
Bilirubin Level ◽  
Serum Bilirubin ◽  
Single Agent ◽  
Serum Bilirubin Level ◽  
Neonatal Hyperbilirubinemia ◽  
Treatment Modalities ◽  
Combination Group ◽  
Control Group ◽  
Term Newborns ◽  
Time Required

Objective. To determine the value of oral agar in the treatment of neonatal hyperbilirubinemia and to compare it with two other treatment modalities: phototherapy alone and phototherapy plus oral agar. Methods. Two hundred eight jaundiced full-term newborns were divided into four groups. They were given either phototherapy alone, phototherapy plus oral agar, oral agar alone, or no treatment (control group). The changes in the serum bilirubin values were determined and the results were compared statistically, mainly using analysis of variance. Results. In all three therapy groups, the time required to reduce the bilirubin level to either 15 mg/dL or to 10 mg/dL was significantly shorter than that required by the control group. Although oral agar was found to be as effective as phototherapy, the most significant decrease in bilirubin level was in the combination group. Conclusions. The efficacy of phototherapy in decreasing the serum bilirubin level in neonatal hyperbilirubinemia can be augmented with the use of oral agar. Oral agar can also be used as a single agent for the treatment of neonatal hyperbilirubinemia, since it is as effective as phototherapy.

scholarly journals Single-Dose Primaquine in a Preclinical Model of Glucose-6-Phosphate Dehydrogenase Deficiency: Implications for Use in Malaria Transmission-Blocking Programs

2016 ◽  
Vol 60 (10) ◽  
pp. 5906-5913 ◽  
Author(s):  
Kristina S. Wickham ◽  
Paul C. Baresel ◽  
Sean R. Marcsisin ◽  
Jason Sousa ◽  
Chau T. Vuong ◽  
...  
Keyword(s):  
Single Dose ◽  
Malaria Transmission ◽  
Hemolytic Anemia ◽  
G6pd Deficiency ◽  
Safety Data ◽  
Vehicle Control ◽  
Control Group ◽  
Vehicle Control Group ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Dose Dependent

ABSTRACTIndividuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDd) are at risk for developing hemolytic anemia when given the antimalarial drug primaquine (PQ). The WHO Evidence Review Group released a report suggesting that mass administration of a single dose of PQ at 0.25 mg of base/kg of body weight (mpk) (mouse equivalent of 3.125 mpk) could potentially reduce malaria transmission based on its gametocytocidal activity and could be safely administered to G6PD-deficient individuals, but there are limited safety data available confirming the optimum single dose of PQ. A single-dose administration of PQ was therefore assessed in our huRBC-SCID mouse model used to predict hemolytic toxicity with respect to G6PD deficiency. In this model, nonobese diabetic (NOD)/SCID mice are engrafted with human red blood cells (huRBC) from donors with the African or Mediterranean variant of G6PDd (A-G6PDd or Med-G6PDd, respectively) and demonstrate dose-dependent sensitivity to PQ. In mice engrafted with A-G6PD-deficient huRBC, single-dose PQ at 3.125, 6.25, or 12.5 mpk had no significant loss of huRBC compared to the vehicle control group. In contrast, in mice engrafted with Med-G6PDd huRBC, a single dose of PQ at 3.125, 6.25, or 12.5 mpk resulted in a significant, dose-dependent loss of huRBC compared to the value for the vehicle control group. Our data suggest that administration of a single low dose of 0.25 mpk of PQ could induce hemolytic anemia in Med-G6PDd individuals but that use of single-dose PQ at 0.25 mpk as a gametocytocidal drug to block transmission would be safe in areas where A-G6PDd predominates.

scholarly journals G6PD Status in Patients with Presenile and Senile Cataract

1970 ◽  
Vol 6 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Farzana Yasmin ◽  
Noorzahan Begum ◽  
Sultana Ferdousi
Keyword(s):  
G6pd Deficiency ◽  
Cross Sectional Study ◽  
Senile Cataract ◽  
Control Group ◽  
Chi Square ◽  
Cross Sectional ◽  
Chi Square Test ◽  
Male Patients ◽  
Group B ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the common enzymopathy and may be one of the risk factor for both presenile and senile cataract. Objective: To observe erythrocyte G6PD level in male patients with presenile and senile cataract in order to find out their enzyme status. Methods: This cross sectional study was carried out in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag Dhaka between 1st July 2009 and 30th June 2010. 60 male patients with presenile and senile cataract were included in the study group (Group-B). They were selected from Out patient Department (OPD) of Ophthalmology of BSMMU in Dhaka City. For comparison age matched 60 apparently healthy male without cataract (Group A) were also studied. According to age both study & control group were again subdivided in to Group B1 & A1(presenile,aged 40-60 years) and Group B2 & A2(senile, aged >60 years). Erythrocyte G6PD level was measured by Spectrophotometric method. Data were analyzed by independent sample t test, ANOVA, Chi-square test as applicable. Results: Mean erythrocyte G6PD level was significantly lower (P<0.01) in the presenile and senile cataractous groups compared to their corresponding noncataractous subjects. However 26.7% cataractous patients in presenile and 6.7% in senile group were G6PD deficient. Conclusion: Erythrocyte G6PD deficiency may be present in both presenile and senile cataract but more marked in presenile cataract patients. Key words: G6PD; Cataract. DOI: http://dx.doi.org/10.3329/jbsp.v6i1.8058 J Bangladesh Soc Physiol. 2011 June; 6(1): 1-4

scholarly journals Identification of Genetic Risk Factors for Neonatal Hyperbilirubinemia in Fujian Province, Southeastern China: A Case-Control Study

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Jinfu Zhou ◽  
Changyi Yang ◽  
Wenbin Zhu ◽  
Shuwei Chen ◽  
Yinglin Zeng ◽  
...  
Keyword(s):  
Risk Factors ◽  
Genetic Risk ◽  
G6pd Deficiency ◽  
Genetic Risk Factors ◽  
Neonatal Hyperbilirubinemia ◽  
Control Group ◽  
Case Group ◽  
Southeastern China ◽  
Abo Incompatibility ◽  
Control Study

To date, the genetic risk factors for neonatal hyperbilirubinemia remain unknown in Southeastern China. This case-control study aimed to identify the genetic risk factors for neonatal hyperbilirubinemia in Fujian, Southeastern China. A total of 286 hyperbilirubinemic newborns were enrolled as a case group, and 250 randomly selected newborns without jaundice or with a bilirubin level that was lower than the threshold required for phototherapy served as controls. The serum levels of total bilirubin, unconjugated bilirubin, and direct bilirubin were measured, and the common genetic loci in UGT1A1, OATP1B1, and HO-1 genes were genotyped. Higher incidence of ABO incompatibility and G6PD deficiency was detected in the case group compared to the control group (P < 0.01). There were significant differences in the frequencies of rs4148323 and rs1805173 genotypes between the case and control groups (P < 0.05). At the rs4148323 locus, the frequencies of GA heterozygotes and AA mutant homozygotes were higher in the case group than in the control group (P < 0.05), and at the rs1805173 locus, the frequencies of LS, MS, and SS genotypes were higher in the case group than in the control group (P < 0.05). A higher frequency of rs4148323 A allele and rs1805173 S allele was detected in the case group compared to the control group (P = 0). Additionally, multivariate logistic regression analysis identified that the mutant genotype of rs4148323 in the UGT1A1 gene, ABO incompatibility, G6PD deficiency, and SS genotype at rs1805173 locus of the HO-1 gene were genetic risk factors of neonatal hyperbilirubinemia. Our data demonstrate that G211 mutation in the UGT1A1 gene, ABO incompatibility, G6PD deficiency, and the SS genotype of the repeats in the promoter region of the HO-1 gene are risk factors for neonatal hyperbilirubinemia in Fujian, Southeastern China.

scholarly journals Glucose-6-Phosphate Dehydrogenase (G6PD) status in Female Type 2 Diabetes Mellitus and its Relationship with HbA1C

1970 ◽  
Vol 5 (2) ◽  
pp. 60-65 ◽  
Author(s):  
Nadira Akter ◽  
Noorzahan Begum ◽  
Sultana Ferdousi
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Risk Factor ◽  
G6pd Deficiency ◽  
Glycosylated Hemoglobin ◽  
Health Science ◽  
Control Group ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency may be one of the risk factor for type 2 diabetes mellitus. Objective: To observe erythrocyte G6PD status in type 2 female diabetic patients and also to find out its relationship with glycosylated hemoglobin. Methods: This cross sectional study was carried out in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka from January to December 2009. For this, 60 female patients with type 2 diabetes mellitus, age ranged from 40 to 60 years were included in the study group (group B). On the basis of glycosylated hemoglobin level (HbA1C) they were further subdivided into group B1, consisting of 30 controlled diabetics (HbA1C 4.8-6%) and group B2, consisting of 30 uncontrolled diabetic (HbA1C>6%) patients. They were selected from Out Patient Department of Bangladesh Institute of Health Science Hospital. For comparison, age & sex matched 30 apparently healthy non diabetic females (group A) were also studied. Erythrocyte G6PD level was measured by Spectrophotometer, HbA1C level by Flex reagent cartridge and serum bilirubin, Hb%, total count of RBC and reticulocyte% were measured by standard laboratory techniques. For statistical analysis ANOVA, independent sample t test, χ2 test and Pearson's correlation coefficient test were performed as applicable. Results: In this study, erythrocyte G6PD level was significantly lower in both the diabetic groups (p <0.001) than those of control group but their difference when compared between B1 and B2 was not statistically significant. In controlled diabetics 20% and in uncontrolled diabetics 6.7% patients were found G6PD deficients. No G6PD deficient subjects were found in control group. HbA1C showed negative correlation with Erythrocyte G6PD which was only significant for uncontrolled diabetes (p < 0.05) Conclusion: This study concludes that G6PD deficiency may be one of the risk factor for type 2 diabetes mellitus irrespective of blood glucose control status.Key words: Glucose-6-PD; Diabetes; Female.DOI: 10.3329/jbsp.v5i2.6778J Bangladesh Soc Physiol. 2010 December; 5(2): 60-65

scholarly journals Neonatal jaundice and glucose-6-phosphate dehydrogenase deficiency

2016 ◽  
Vol 11 (4) ◽  
Author(s):  
Sohail Rasheed ◽  
Abdul Hayee ◽  
Yasmeen Lodhi ◽  
Rafi Ahmed
Keyword(s):  
Bilirubin Level ◽  
G6pd Deficiency ◽  
Neonatal Jaundice ◽  
Dehydrogenase Deficiency ◽  
Total Bilirubin ◽  
Total Bilirubin Level ◽  
Normal Subjects ◽  
Group I ◽  
Level Of Significance ◽  
Glucose 6 Phosphate Dehydrogenase

One hundred new born males babies aged 7 days and above were included in this study. These were divided into two groups — Group I included G6PD normal subjects and Group II included G6PD deficient subjects. Total bilirubin and G6PD enzyme levels were done by commercially available kits. Results were analysed by using students `t` test and level of significance was done. A significant increase in total bilirubin level was observed in infants of G6PD deficiency, Erythrocyte G6PD level is significantly decreased in 06% of infants born with neonatal jaundice.

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