G6PD-deficient Neonates Research Articles

Rate of glucose-6-phosphate dehydrogenase deficiency in neonatal indirect hyperbilirubinemia at a private tertiary centre.

To investigate the rate of hospitalized neonates with glucose-6-phosphate dehydrogenase (G6PD) deficiency presented with indirect hyperbilirubinemia at a private tertiary center in Al-Ahsa, Saudi Arabia, over 4 years and to compare the characteristics of G6PD-deficient and normal neonates admitted for indirect hyperbilirubinemia. The retrospective case control study was carried out at Almoosa Specialist Hospital, Al-Ahsa, Saudi Arabia. Data were collected from Yassasi Medical System from 2018-2021 and finalized in 2024. The study included 2 groups: G6PD-normal and G6PD-deficient neonates with indirect hyperbilirubinemia not having recognizable triggers of hemolysis. The analysis focused on serum bilirubin levels, direct bilirubin levels, hematocrit levels, hemoglobin levels, reticulocyte percentage, G6PD levels, duration of phototherapy, and the need for exchange transfusion. The study enrolled 3200 neonates with hyperbilirubinemia, of whom 274 met inclusion criteria. A total of 103 (37.6%) neonates were G6PD-deficient, with 77 (74.8%) being male and 26 (25.2%) female. Glucose-6-phosphate dehydrogenase-deficient neonates exhibited significantly higher initial total bilirubin levels and earlier sampling times. There was no significant correlation between G6PD deficiency and hematocrit or hemoglobin levels in hyperbilirubinemic neonates, but 4 neonates required exchange transfusion, demonstrating statistical significance (p=0.009). High rate of G6PD deficiency in neonates with indirect hyperbilirubinemia, requiring close monitoring to prevent exchange transfusions, with no significant differences in hematocrit or hemoglobin levels.

Glucose-6-phosphate dehydrogenase deficiency and neonatal indirect hyperbilirubinemia: a retrospective cohort study among 40,305 consecutively born babies

Background and objectiveGlucose-6-phosphate dehydrogenase deficiency (G6PDD) being highly prevalent in the Middle East, the primary objective was to estimate the incidence of neonatal jaundice among G6PD-deficient neonates and to explore its association with various risk factors.MethodsThis retrospective cohort study includes 7 years data of neonates diagnosed with G6PDD between 1st January 2015, and 30 September 2022, from Al Wakra Hospital, HMC Qatar.ResultsAmong the 40,305 total births, 1013 had G6PDD with an incidence of 2.51%. Of all the G6PDD babies, 24.6% (249/1013) received phototherapy and three babies required exchange transfusion. Statistically significant associations were noted between the need for phototherapy and gestational age, gestational age groups, birth weight, and birth weight groups, but logistic regression analysis showed significant association for phototherapy only with the gestational age group.ConclusionUniversal screening and proper follow-up is essential for G6PDD as it plays crucial role in neonatal jaundice.

Effects of Two Different Doses of Ursodeoxycholic Acid on Indirect Hyperbilirubinemia in Neonates with Glucose-6-phosphate Dehydrogenase Deficiency Treated with Phototherapy: A Randomized Controlled Trial

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the causes of severe hyperbilirubinemia, prolonged jaundice, and bilirubin-induced encephalopathy in neonates. In a randomized controlled trial, we evaluated the effect of oral ursodeoxycholic acid (UDCA) on indirect hyperbilirubinemia in G6PD-deficient neonates requiring phototherapy. Intervention group I (N = 45; received phototherapy and 10 mg/kg/day UDCA), Intervention group II (N = 40; received phototherapy and 20 mg/kg/day UDCA), and a control group (N = 49; received phototherapy and placebo). Levels of total serum bilirubin (TSB) in all 3 groups decreased significantly over time (P = .001) but the level of TSB at different hours after admission and the duration of phototherapy did not differ significantly between the 3 groups. After discharge, the 2 intervention groups had a significantly lower rate of readmission than the control group (P = .001). No significant difference was observed between the 10 and 20 mg/kg/day groups. Further evaluation is recommended, especially in terms of the pharmacokinetics of UDCA in neonates. Trial registration number: IRCT20091201002801N4, prospectively registered on 2019-06-1.

Technical evaluation and usability of a quantitative G6PD POC test in cord blood: a mixed-methods study in a low-resource setting

ObjectivesNew point-of-care (POC) quantitative G6PD testing devices developed to provide safe radical cure for Plasmodium vivax malaria may be used to diagnose G6PD deficiency in newborns at risk of severe...

Risk Factors Predicting the Need for Phototherapy in Glucose 6 Phosphate Dehydrogenase-Deficient Infants in a Large Retrospective Cohort Study

Introduction: Glucose 6-phosphate dehydrogenase (G6PD) deficiency increases the risk of severe neonatal hyperbilirubinemia. This study evaluates the risk factors predicting the need for phototherapy in G6PD-deficient neonates after 72 h of age and assesses the safety of early discharge. Methods: A retrospective cohort study of 681 full-term G6PD-deficient infants with a birth weight ≥2,500 g over 4 years was conducted. We compared the baseline characteristics, bilirubin level on day 4 (after 72 h of life), day of peak bilirubin, G6PD levels, and concomitant ABO incompatibility between the group that required phototherapy (Group A) and those who did not (Group B). Results: 396 infants (58%), predominantly males, required phototherapy in the first week of life. The infants who required phototherapy had a lower median gestational age (38.3 vs. 38.7 weeks, p < 0.01) and had lower G6PD levels (2.3 ± 2.5 vs. 3 ± 3.4 IU, p < 0.05) compared to the controls. The mean day-four total serum bilirubin (TSB) levels were higher (213 ± 32 vs. 151 ± 37 µmol/L, p < 0.01), with bilirubin level peaking earlier (3 vs. 4 days of life, p < 0.01) in group A. Regression analysis identified TSB levels on day 4, Chinese race, lower gestation, and concomitant ABO incompatibility as the significant predictors for the need for phototherapy in the study population. In particular, coexisting ABO blood group incompatibility increased the risk of jaundice requiring phototherapy (OR 4.27, 95% CI: 1.98–121, p < 0.01). Day four TSB values above 180 µmol/L predicted the need for phototherapy with 86% sensitivity and 80% specificity. The findings were similar across both male and female infants with G6PD deficiency. Conclusion: G6PD-deficient infants with day four TSB levels of >180 µmol/L (10.5 mg/dL) and associated ABO blood group incompatibility have a higher risk of requiring phototherapy in the first week of life and should be closely monitored.

Neonatal Screening for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in Eastern India

Introduction: The overall magnitude of the frequency of G6PD deficiency ranges between 0 to 10 percent in the Indian population. This prospective study was planned to estimate the prevalence of G6PD deficiency in newborn population born in a tertiary care centre in Eastern India. Methods: This prospective observational study was undertaken among all consecutively delivered neonates born in a tertiary care teaching hospital of Eastern India, between Apr 2016 and Oct 2017. Prematurity less than 32 weeks and perinatal asphyxia requiring extensive resuscitation were excluded from the study. Umbilical cord blood samples were collected in a EDTA containers, drawn from the placental side of the umbilical cord incised while severing it at the time of birth. The G6PD levels were estimated quantitatively based on ultraviolet (UV) method by quantitative sphectrophotometric assay using ILab 650 fully automated analyzer. All babies wherein the cord blood G6PD levels was less than 6.95 mU/g of Hb was taken as deficient. Results: Mean (SD) of G6PD at birth was 12.56 (3.45) mU/g of Hb. Out of 1037 neonates, five were found to be G6PD deficient. There was increased incidence of neonatal jaundice requiring phototherapy in G6 PD deficient neonates, and it was statistically significant. Conclusion: The prevalence of G6PD deficiency was 0.48% in term and late preterm neonates as assessed quantitatively in cord blood

Co-inheritance of G6PD deficiency and 211\u2009G to a variation of UGT1A1 in neonates with hyperbilirubinemia in eastern Guangdong

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency, which may manifest as neonatal hyperbilirubinemia, is the most prevalent erythrocytic enzyme-related disease in the world.ObjectiveTo 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.MethodThe 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.ResultsSeventy 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).ConclusionThe 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.

Correction to 'Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation'.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation.

G6PD deficiency is the commonest enzyme deficiency found in humans. Current diagnostic methods lack sensitivity to detect all cases of G6PD deficiency. We evaluated the reverse dot blot flow-through hybridisation assay designed to detect simultaneously multiple known G6PD mutations in a group of Malaysian neonates. Archival DNA samples from 141 G6PD-deficient neonates were subjected to reverse dot blot flow-through hybridisation assay using the GenoArray Diagnostic Kit (Hybribio Limited, Hong Kong) and DNA sequencing. The method involved PCR amplification of 5 G6PD exons using biotinylated primers, hybridisation of amplicons to a membrane containing oligoprobes designed for G6PD mutations known to occur in the Malaysian population and colour detection by enzyme immunoassay. The assay detected 13 of the 14 G6PD mutations and genotyped 133 (94.3%) out of 141 (102 males, 39 females) cases. Among the 39 female G6PD-deficient neonates, there were 7 homozygous and 6 compound heterozygous cases. The commonest alleles were G6PD Viangchan 871G > A (21%) and G6PD Mahidol 487G > A(20%) followed by G6PD Mediterranean 563C > T, (14%), G6PD Vanua Lava 383T > C (12%), G6PD Canton 1376G > T (10%), G6PD Orissa 131C > G (6.3%) G6PD Coimbra 592C > T (5.6%) plus 6 other mutations. DNA sequencing of remaining cases revealed 6 cases of intron 11 nt 93C > T not previously reported in Malaysia and two novel mutations, one case each of nt 1361G > T and nt 1030G > A. We found the reverse dot blot assay easy to perform, rapid, accurate and reproducible, potentially becoming an improved diagnostic test for G6PD deficiency.

G6PD Deficiency Prevalence as a Cause of Neonatal Jaundice in a Neonatal Ward in Dohuk, Iraq.

The current study initiated to address the effect of glucose-6-phosphate dehydrogenase (G6PD) deficiency on the pathogenesis and the severity of neonatal hyperbilirubinemia (NHB). A total of 100 newborns with moderate to severe indirect hyperbilirubinemia and 50 normal neonates without hyperbilirubinemia had been enrolled in the current case-control study. All enrolled neonates had been tested for ABO and Rh(D) blood grouping, Total serum bilirubin measurement, complete blood count, morphology, reticulocyte counts, direct Coombs' test, and G6PD enzyme assay. From all enrolled hyperbilirubinemic neonates, 16% were G6PD deficient and this displays a statistically significant difference in comparison to controls (only 6% were G6PD deficient). Also, significant difference was found in the level of serum indirect bilirubin among G6PD-deficient neonate in comparison to G6PD nondeficient neonates which had contributed significantly to the difference in the duration of phototherapy and hospitalization among deficient neonate. Despite this, no significant difference found in the onset of presentation, reticulocytes count, and age of neonates between the two groups (G6PD-deficient and G6PD nondeficient neonates). The current study augments the etiological role of G6PD in the causation and severity of NHB in the region; however, in the absence of significant difference in the reticulocytes and the hemoglobin level, the underlying mechanism cannot be backed to the excess hemolysis alone.

Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency among Neonates in Usmanu Danfodiyo University Teaching Hospital (UDUTH), Sokoto, Nigeria: Oxidative Stress Markers in G6pd Deficient Neonates

Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency among Neonates in Usmanu Danfodiyo University Teaching Hospital (UDUTH), Sokoto, Nigeria: Oxidative Stress Markers in G6pd Deficient Neonates

Decreased Glutathione S-transferase Level and Neonatal Hyperbilirubinemia Associated with Glucose-6-phosphate Dehydrogenase Deficiency: A Perspective Review.

Classically, genetically decreased bilirubin conjugation and/or hemolysis account for the mechanisms contributing to neonatal hyperbilirubinemia associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency. However, these mechanisms are not involved in most cases of this hyperbilirubinemia. Additional plausible mechanisms for G6PD deficiency-associated hyperbilirubinemia need to be considered. Glutathione S-transferases (GST) activity depends on a steady quantity of reduced form of glutathione (GSH). If GSH is oxidized, it is reduced back by glutathione reductase, which requires the reduced form of nicotinamide adenine dinucleotide phosphate (NADPH). The main source of NADPH is the pentose phosphate pathway, in which G6PD is the first enzyme. Rat kidney GSH, rat liver GST, and human red blood cell GST levels have been found to positively correlate with G6PD levels in their respective tissues. As G6PD is expressed in hepatocytes, it is expected that GST levels would be significantly decreased in hepatocytes of G6PD-deficient neonates. As hepatic GST binds bilirubin and prevents their reflux into circulation, hypothesis that decreased GST levels in hepatocytes is an additional mechanism contributing to G6PD deficiency-associated hyperbilirubinemia seems plausible. Evidence for and against this hypothesis are discussed in this article hoping to stimulate further research on the role of GST in G6PD deficiency-associated hyperbilirubinemia.

A study of glucose-6-phosphate dehydrogenase deficiency in neonatal hyperbilirubinemia

Background: Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme essential for basic cellular functions, including protection of red cell proteins from oxidative damage. G6PD deficiency is the most common red cell enzyme abnormality associated with hemolysis as well as with neonatal jaundice, kernicterus, and even death. It plays a protective role against malaria. It is a genetically inherited sex-linked abnormality. Objectives: To determine the age, sex, and different community-wise incidence of G6PD deficiency in neonatal subjects having neonatal hyperbilirubinemia. Materials and Methods: This study was carried out among 170 neonates at Biochemistry Department of B.J. Medical College & Civil Hospital, Ahmedabad, Gujarat, India, between August 2007 and July 2009. Results: Of 170 neonates, 123 were males and 47 were females, and 18 neonates showed deficiency of G6PD in red cells. Parsi community had highest incidence of G6PD enzyme deficiency. Muslim community had higher incidence than Hindu community because of consanguineous marriages. Of total 18 G6PD enzyme–deficient subjects, 11 were early neonates and 7 were late neonates. Of these 11 G6PD enzyme–deficient early neonates, 5 were 6-day old. Highest incident was found on 2-day-old neonates. Conclusion: The G6PD-deficient neonates are prone to a greater incidence of neonatal jaundice. Methylene blue reduction test is useful screening procedure, so the quantitative enzyme assay must be used for a definitive diagnosis of G6PD deficiency.

Early Neonatal Bilirubin, Hematocrit, and Glucose-6-Phosphate Dehydrogenase Status

To document the patterns of bilirubin and hematocrit values among glucose-6-phosphate dehydrogenase (G6PD)-deficient and G6PD-normal Nigerian neonates in the first week of life, in the absence of exposure to known icterogenic agents. The G6PD status of consecutive term and near-term neonates was determined, and their bilirubin levels and hematocrits were monitored during the first week of life. Infants were stratified into G6PD deficient, intermediate, and normal on the basis of the modified Beutler's fluorescent spot test. Means of total serum bilirubin (TSB) and hematocrits of the 3 groups of infants were compared. The 644 neonates studied comprised 353 (54.8%) boys and 291 (45.2%) girls and 540 (83.9%) term and 104 (16.1%) near-term infants. They consisted of 129 (20.0%) G6PD-deficient, 69 (10.7%) G6PD-intermediate, and 446 (69.3%) G6PD-normal neonates. The G6PD-deficient and G6PD-intermediate infants had higher mean TSB than their G6PD-normal counterparts at birth and throughout the first week of life (P < .001). Mean peak TSB levels were 14.1 (9.48), 10.2 (3.8), and 6.9 (3.3) mg/dL for G6PD-deficient, G6PD-intermediate, and G6PD-normal neonates, respectively. Peak TSB was attained on approximately day 4 in all 3 groups, and trends in TSB were similar. Mean hematocrits at birth were similar in the 3 G6PD groups. However, G6PD-deficient and -intermediate infants had higher declines in hematocrit, bilirubin levels, and need for phototherapy than G6PD-normal infants (P < .001). The G6PD-deficient and G6PD-intermediate neonates had a higher risk of neonatal hyperbilirubinemia and would therefore need greater monitoring in the first week of life, even without exposure to known icterogenic agents.

Lower reference limits of quantitative cord glucose-6-phosphate dehydrogenase estimated from healthy term neonates according to the Clinical and Laboratory Standards Institute guidelines: a cross sectional retrospective study.

BackgroundPrevious studies have reported the lower reference limit (LRL) of quantitative cord glucose-6-phosphate dehydrogenase (G6PD), but they have not used approved international statistical methodology. Using common standards is expecting to yield more true findings. Therefore, we aimed to estimate LRL of quantitative G6PD detection in healthy term neonates by using statistical analyses endorsed by the International Federation of Clinical Chemistry (IFCC) and the Clinical and Laboratory Standards Institute (CLSI) for reference interval estimation.MethodsThis cross sectional retrospective study was performed at King Abdulaziz Hospital, Saudi Arabia, between March 2010 and June 2012. The study monitored consecutive neonates born to mothers from one Arab Muslim tribe that was assumed to have a low prevalence of G6PD-deficiency. Neonates that satisfied the following criteria were included: full-term birth (37 weeks); no admission to the special care nursery; no phototherapy treatment; negative direct antiglobulin test; and fathers of female neonates were from the same mothers’ tribe. The G6PD activity (Units/gram Hemoglobin) was measured spectrophotometrically by an automated kit. This study used statistical analyses endorsed by IFCC and CLSI for reference interval estimation. The 2.5th percentiles and the corresponding 95% confidence intervals (CI) were estimated as LRLs, both in presence and absence of outliers.Results207 males and 188 females term neonates who had cord blood quantitative G6PD testing met the inclusion criteria. Method of Horn detected 20 G6PD values as outliers (8 males and 12 females). Distributions of quantitative cord G6PD values exhibited a normal distribution in absence of the outliers only. The Harris-Boyd method and proportion criteria revealed that combined gender LRLs were reliable. The combined bootstrap LRL in presence of the outliers was 10.0 (95% CI: 7.5-10.7) and the combined parametric LRL in absence of the outliers was 11.0 (95% CI: 10.5-11.3).ConclusionThese results contribute to the LRL of quantitative cord G6PD detection in full-term neonates. They are transferable to another laboratory when pre-analytical factors and testing methods are comparable and the IFCC-CLSI requirements of transference are satisfied. We are suggesting using estimated LRL in absence of the outliers as mislabeling G6PD-deficient neonates as normal is intolerable whereas mislabeling G6PD-normal neonates as deficient is tolerable.

The Effect of Clofibrate With Phototherapy on Full-Term Newborns With Non-Hemolytic Jaundice

Dear Editor, Hyperbilirubinemia is a common problem in Iranian newborns and constitutes approximately one third of admissions to our neonatal ward. Phototherapy is the most widely used form of therapy for the treatment of neonatal hyperbilirubinemia (1). There are some pharmacological agents introduced for treatment of unconjugated neonatal jaundice, such as Phenobarbital, Metalloporphyrins, and D–penicillaminem but more research is necessary to prove their safety in clinical use (2). Glucuronyl transferase activity can be increased with administration of clofibrate (3). Therefore, this drug has been recently proposed for the treatment of neonatal hyperbilirubinemia (4, 5) but, it has not yet been approved as a routine drug for treatment of neonatal jaundice. The aim of the present study was to determine the effect of 100 mg/kg clofibrate on Total serum bilirubin (TSB) level in healthy term neonates. After receiving written consent from the parents, 100 neonates with hyperbilirobinemia were enrolled in this study. Inclusion criteria were body weight between 2500-3500grams, gestational age between 38 to 41 weeks, breastfed, and having TSB between 17 to 22 mg/dl, postnatal age between 3-7 days. Neonates with any congenital anomaly, hemolytic disease (Rh or ABO incompatibility and a positive combs' test), infection (congenital or acquired), dehydration, G6PD deficiency and conjugated bilirubin more than 1/5mg/dl or exceeding 15% of total serum bilirubin were excluded. In this open labeled study, patients were randomly allocated to the treatment group (clofibrate) or the control group by a simple randomization method using a table of random numbers. All neonates in both groups received phototherapy. Each phototherapy unit contained 4 special white lamps and was adjusted 20 cm above the neonatal cot. The lamps were changed regularly after 250 hours of usage. A single dose of clofibrate (100 mg/kg) was administered orally to infants in the study group within 12 hours of admission. Phototherapy was started immediately on admission for all studied patients until TSB decreased to a safe level ( 0.05). Although bilirubin level reduced in the control and clofibrate groups after 12, 24, 48, and 72 hours, this reduction in clofirate group was statistically significant. It also confirmed by repeated measurement test (P < 0.0001) (Table 1). The duration of phototherapy in Clofibrate group was 24.44 ± 10.13 hours in neonates receiving clofibrate versus 44.4 ± 15.38 in control group (P < 0.0001). On serial examination during hospitalization and between two and four weeks after discharge at the outpatient clinic, no side effects were observed. The neonates in both groups did not need exchange transfusion and hyperbilirulbinemia was controlled by phototherapy. The present study demonstrated that a single dose of clofibrate (100 mg/kg) in healthy full-term breastfed newborn with marked hyperbilirubinemia can significantly reduce indirect bilirubin levels after12 hours of treatment. These findings are consistent with the results of other studies that have demonstrated the efficacy of clofibrate in reduction of indirect bilirubin (5). Our study was carried out in term neonates. However, some studies showed similar results in pre-term and G6PD deficient neonates (4, 5). Clofibrate increases bilirubin conjugation and excretion, faster than phenobarbital and is a better enhancer of glucuronosyl transferas, with no drowsiness (6). Phenobarbital also has a long half-life, causes drowsiness and may increases the risk of bilirubin toxicity in brain (7). Clofibrate has some side effects in adults such as nausea, gastrointestinal disturbance, vomiting and loose stools. None of these side effects were reported in neonates with a single dose of clofibrate (8, 9). We didn’t find any side effects during our study. Indeed, clofibrate only is actually available pharmacologic agent that could be used effectively in neonatal hyperbilirubinemia without any side effects. Table 1 Total Serum Bilirubin Level After 12, 24, 48 and 72 Hours in Clofibrate and Control Groups

Some Aspects of Liver Function Status in G6PD Deficient Neonates and Its Relationship with G6PD

Background: Neonatal jaundice is a common cause of newborn hospital admission. G6PD enzyme defects is one of the factor to develop neonatal hyperbilirubinemia, which may be related to abnormal liver function in this group of neonates.Objective: To observe some aspects of liver function status by measuring serum bilirubin and alanine amino transferase levels in G6PD deficient neonates and also their relationship with erythrocyte G6PD levels.Methods: The study was conducted on 30 male, term neonates with G6PD deficiency in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University (BSMMU) between 1st July 2007 to 30th June 2008. For comparison age and sex matched 30 apparently healthy neonates without deficiency (control group) were also included in the study. Erythrocyte G6PD level was measured by Spectrophotometric method by using kit of Randox. Alanine amino transferase level was done by Schumann and Klauke method. For statistical analysis independent sample “t” test and Pearson’s correlation coefficient test were performed as applicable by using SPSS for windows version-13Results: In this study, significantly (p&lt;0.001)higher level of serum bilirubin &amp; ALT were found in G6PD deficient group in comparison to those of non-deficient group. Further more, serum bilirubin &amp; ALT levels were negatively (r=-.671, (r= -.534) correlated with erythrocyte G6PD level and it was statistically significant (p&lt;0.01) in G6PD deficient group. Again, significant (p&lt;0.05) positive (r=+.429) correlation of serum bilirubin level was observed in non deficient group. Whereas, non significant positive (r=+.041) correlations of ALT was found in non deficient group.Conclusion: From the study results it can be concluded that higher level of alanine amino transferaseand hyperbilirubinemia were present in G6PD deficient neonates &amp; increase serum bilirubin and serum alanine amino transferase levels were associated with degree of G6PD enzyme deficiency. DOI: http://dx.doi.org/10.3329/jbsp.v7i1.11158 J Bangladesh Soc Physiol. 2012, June; 7(1): 36-40

Erythrocyte glucose-6-phosphate dehydrogenase deficiency in male newborn babies and its relationship with neonatal jaundice

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the commonest red cell enzymopathy in humans, has an X-linked inheritance. The major clinical manifestations are drug induced hemolytic anemia, neonatal jaundice and chronic nonspherocytic hemolytic anemia. The incidence of neonatal hyperbilirubinemia is much greater in G6PD-deficient neonates than babies without this deficiency. The aim of this study was to ascertain the presence of neonatal jaundice in erythrocyte G6PD-deficient male newborns. Samples of umbilical cord blood from a total of 204 male newborns of the Januário Cicco School Maternity located in Natal, Rio Grande do Norte, Brazil were analyzed. The G6PD deficiency was identified by the methemoglobin reduction test (Brewer's test). The deficiency was confirmed by quantitative spectrophotometric assay for enzyme activity and cellulose acetate electrophoresis was used to identify the G6PD variant. Eight newborns were found to be G6PD deficient with four of them exhibiting jaundice during the first 48 hours after birth with bilirubin levels higher than 10 mg/dL. All deficient individuals presented the G6PD A- variant at electrophoresis. Our findings confirmed the association between G6PD deficiency and neonatal jaundice. Hence, early diagnosis of the deficiency at birth is essential to control the appearance of jaundice and to prevent the exposure of these newborns to known hemolytic agents.

A novel c.197T &lt;FONT FACE=Symbol&gt;®&lt;/FONT&gt; A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49) deficiency is the most common enzyme deficiency worldwide, causing a spectrum of diseases including neonatal hyperbilirubinemia and acute or chronic hemolysis. We used the methemoglobin reduction test and G6PD electrophoresis to screen 655 neonates (354 females and 301 males) for common G6PD mutations in the city of Salvador in the Northeastern Brazilian state Bahia and found that 66 (10.1%) were G6PD-deficient (41 females and 25 males). The 66 (10.1%) G6PD-deficient neonates were assessed for the c.376 A → G (exon 5) and c.202 G → A (exon 4) mutations using the polymerase chain reaction and restriction enzyme fragment length polymorphism (PCR-RFLP) analysis and the results validated by DNA sequencing. Of the 66 G6PD-deficient neonates investigated we found that 54 (81.8%) presented the c.376 A → G (p.Asn126Asp) and c.202 G→A (p.Val68Met) mutations, two (3%) had the c.376 A→G mutation only, two (3%) had the c.202 G→A mutation only, five (7.6%) exhibited a previously unrecorded 197T→A (p.Phe66Thr) substitution in exon 4 and three showed no mutations at any of these sites. Of the five neonates exhibiting the new 197T → A (p.Phe66Thr) substitution, four (6.1%) also presented the c.202 G → A and c.376 A → G mutations and one (1.5%) had the c.[197T → A / 202 G → A] combination. We propose to name the new variant G6PD Bahia

A Randomized, Triple-Blind, Placebo-Controlled Trial of Prophylactic Oral Phenobarbital to Reduce the Need for Phototherapy in G6PD-Deficient Neonates

Decreased conjugation is probably more important than hemolysis for causing jaundice in G6PD-deficient neonates. The role of enzyme inducers, like phenobarbital, in G6PD deficiency is unclear. This randomized controlled trial was performed to evaluate Phenobarbital's role in reducing the need for phototherapy among G6PD-deficient neonates. This stratified, randomized, triple-blinded, placebo-controlled trial was conducted in a level III NICU. Consecutive babies with gestation >/=34 weeks and birth weight >/=1800 g were screened from cord blood. G6PD-deficient neonates, who were otherwise healthy, were enrolled. Rh isoimmunization, maternal Phenobarbital use and lack of parental consent were exclusion criteria. Subjects were randomly allocated to receive 5 mg/kg day of oral phenobarbital/ placebo for first 3 days. They were monitored daily for total serum bilirubin (TSB) until declining TSB was documented twice. The primary outcome was requirement for phototherapy and secondary outcomes were duration of phototherapy, need for exchange transfusion, peak TSB and adverse effects. Sample size of 56 could detect a decline in phototherapy requirement from 40 to 5% with 80% power and 5% error. Of 2370 babies screened, 63 were G6PD-deficient. Of them, 56 eligible babies were allocated to phenobarbital (n=27) or placebo (n=29). The mean age of administration of the first dose was 18.55+/-7.3 h. In total, 44% in phenobarbital group and 41% in placebo group required phototherapy (p=1.0). There was no significant difference in exchange transfusion rates (18.5 vs 10%, p=0.46). No baby had adverse reactions. Prophylactic oral phenobarbital does not decrease the need for phototherapy or exchange transfusions in G6PD-deficient neonates.