Deficient Newborns Research Articles

Reference Values for Quantitative Testing of G6PD Deficiency in Newborns from the Republic of North Macedonia

Glucose-6-phosphate dehydrogenase is a key regulatory enzyme in the pentose-phosphate cycle that participates in the formation of reduced equivalents to maintain the cellular redox status. The G6PD enzyme activity is crucial in protecting cells from oxidative stress. Deficit of the glucose-6-phosphate dehydrogenase (G6PD) has been recognized as the most common inherited enzymopathy worldwide. In the Republic of North Macedonia (RNM), the deficit of glucose-6-phosphate dehydrogenase has been infrequently investigated. Moreover, no reports exist on quantitative testing of G6PD in newborns from the RNM. SCOPE: The aim of our study was to determine the reference values for the level of G6PD in erythrocytes of newborns from the Republic of North Macedonia. For this purpose, eighty-two healthy newborns were selected and tested for G6PD by the quantitative spectrophotometric method. RESULTS: The mean ± SD of the G6PD quantitative value in the examined group was 229.12 ± 24.2 mU/109Er ranging from a minimum of 191.7 to a maximum of 288, and a median of 228.0 mU/109Er, values that were lower than the preset reference values of the diagnostic test in use. CONCLUSION: We speculated that by establishing a specific reference value (range) for the target population and for the appropriate diagnostic test, we would gain increased sensitivity of the test. This would help optimize detection of G6PD deficient newborns, mild-variant hemizygotes and female heterozygotes for the deficiency.

Eau tonique et quinine – un cocktail de bicentenaire servi en pleine effervescence

Objectives of the studyDuring the SARS-CoV-2 pandemic, the media has often mentioned the presence of quinine in tonic water. Media accounts of quinine's antiviral effect in vitro, as well as press reports about quinine-based compounds, such as hydroxychloroquine, have sparked renewed public interest in drinking tonic water, which could perhaps result in an increase in allergic phenomena. On the 200th anniversary of the discovery of quinine, our main objective was to analyze hypersensitivity reactions, related to the consumption of beverages containing quinine, described in the literature. Patients and methodsWe analyzed case reports indexed on Pubmed, Scopus, and Google Scholar. A quinine causality score was calculated for each of the observations. A quinine assay was performed on several beverages for which the quinine content had not been published. ResultsIn parallel with related pharmacokinetic studies, these case reports consist of 26 observations. The case reports mainly related to young men, with symptoms of varying severity, mainly dermatological, with fixed drug eruption, generalized rashes, hives; hematological, with thrombocytopenia, hemorrhagic syndrome, thrombotic microangiopathy; more rarely ocular, cardiac or auditory. The level of causality of quinine is certain for three cases, probable for twenty-two, possible for two. The levels of quinine, all conforming to the standards, were lower in the spirits and the cooked wine than those of tonic water. DiscussionPossibly under-diagnosed, the main mechanism of these reactions is immuno-allergic, without any cross-reaction with other quinolines having been shown. In these patients and breastfeeding women of G6PD deficient newborns, any medicines, phytotherapy, homeopathy, or even cosmetics containing quinine, on the basis of a proposed list, should be avoided.

Study of the prevalence of G6PD deficiency in the RBCs of new borns

This study we attempt to search the need for a newborn screening program for G6PD deficiency because of high prevalence in some areas and no such study was done in part of Maharashtra. Also routinely administered vitamin K prophylaxis can cause hemolysis in G6PD deficient newborns and may prove potentially fatal, which can be prevented if babies are screened for G6PD deficiency. The current study was a retrospective cross-sectional study conducted to determine the prevalence of G6PD deficiency in Red Blood Cells of born live neonates in tertiary care hospital. The research was performed at a tertiary care hospital with the 350 newborns, showing the age distribution of newborns revealed that the highest number of newborns was in the age group of 0-10 hours (96.29 percent). Of the 350 newborns, 181 (51.71 percent) were females and 169 (48.29 percent) were males and the ratio of females to males was 1.07:1. Many newborns had between 2500-3000 g (52.86 percent) of birth weight led by > 3000 g (28 percent) and < 2500 g (19.14 percent). The majority of newborns were Hindu by religion (67.14%) followed by Muslims (22.86%), Buddhists (6%), as well as other religions (4%). Most of the newborns came from 1st gravida (42.86%) and led by 2nd gravida (37.14%)

Prevalence of UGT1A1 (TA)n promoter polymorphism in Panamanians neonates with G6PD deficiency

A relationship between the polymorphism in promoter region of the UGT1A1 gene and the development of jaundice has been demonstrated recently. This polymorphism leads to 30% of normal rate transcription initiation of UGT1A1 gene, thus decreasing the bilirubin glucuronidation. The combination of the G6PD deficiency and polymorphism in neonates and adults may causepronounced hyperbilirubinaemias. The aim of this study was to analyse the variations in the UGT1A1 gene promoter in Panamanians neonates with G6PD deficiency and its association with neonatal jaundice (NJ). We identified five different genotypes of TA repeats, in 17 neonates (42.5%) the normal variant TA6/TA6 and in the other 57.5% of the subjects: TA7/TA7 (12.5%), TA6/TA7 (40%), TA6/TA8 (2.5%) and TA6/TA5 (2.5%). Additionally 75% of the 16 newborns that showed NJ had an abnormal variant in the promotersequence, although, there was no significant difference (P = 0.068). The risk of jaundice in neonates with TA7 variant was thrice higher in subjects than with other alleles (P = 0.093, CI: 0.81-11.67). The TA7 allele frequency in this study (0.325) was consistent with the global frequency and similar to Caucasians. The results proved that there is no significant relationship between promoter polymorphism in UGT1A1 and NJ in G6PD deficient Panamanian newborns. Further studies with a greater number of subjects would determine the exact relationship between marked NJ and UGT1A promoter variations.

Screening of Glucose-6-Phosphate Dehydrogenase Deficiency in Neonatal Hyperbilirubinaemia at 300-Bedded Pyin Oo Lwin General Hospital

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human enzyme deficiencies in the world. It is particularly common in populations living in malaria-endemic areas, affecting more than 400 million people worldwide. This hospital- and laboratory-based, cross-sectional descriptive study was conducted with the aim of determining the prevalence of G6PD deficiency among 200 newborns at 300-bedded Pyin Oo Lwin General Hospital during January to March 2017. The participants were 103 girls (58.5%) and 97 boys (41.5%). Both qualitative and quantitative measurements by using Brewer's method and G-SIX kit method were applied for diagnosis of G6PD deficiency. Total serum bilirubin level was measured by Bilirubinometer. Of the 200 newborns, 21(10.5%) were G6PD deficient. The overall prevalence of G6PD deficiency was 10.5% (21/200) and male was predominant than female (17.5% vs 3.9%). Out of 10.5% (21/100)G6PD deficient newborns, 5(23.8%) and 16(76.2%) were mild and moderate G6PD deficiency, respectively. Regarding hyperbilirubinaemia, 9(42.9%), 3(14.3%), 2(19.0%) and 5(23.8%) were severe, moderate and mild hyperbilirubinaemia and normal bilirubin, respectively. This study showed that a significant correlation between the severity of hyperbili- rubinaemia and G6PD activity (p <0.05). Taking into consideration of the above results, the high prevalence can be useful for providing appropriate prevention and early treatment of complications in routine neonatal screening in this area.

Sulf1 and Sulf2 Differentially Modulate Heparan Sulfate Proteoglycan Sulfation during Postnatal Cerebellum Development: Evidence for Neuroprotective and Neurite Outgrowth Promoting Functions.

IntroductionSulf1 and Sulf2 are cell surface sulfatases, which remove specific 6-O-sulfate groups from heparan sulfate (HS) proteoglycans, resulting in modulation of various HS-dependent signaling pathways. Both Sulf1 and Sulf2 knockout mice show impairments in brain development and neurite outgrowth deficits in neurons.Methodology and Main FindingsTo analyze the molecular mechanisms behind these impairments we focused on the postnatal cerebellum, whose development is mainly characterized by proliferation, migration, and neurite outgrowth processes of precursor neurons. Primary cerebellar granule cells isolated from Sulf1 or Sulf2 deficient newborns are characterized by a reduction in neurite length and cell survival. Furthermore, Sulf1 deficiency leads to a reduced migration capacity. The observed impairments in cell survival and neurite outgrowth could be correlated to Sulf-specific interference with signaling pathways, as shown for FGF2, GDNF and NGF. In contrast, signaling of Shh, which determines the laminar organization of the cerebellar cortex, was not influenced in either Sulf1 or Sulf2 knockouts. Biochemical analysis of cerebellar HS demonstrated, for the first time in vivo, Sulf-specific changes of 6-O-, 2-O- and N-sulfation in the knockouts. Changes of a particular HS epitope were found on the surface of Sulf2-deficient cerebellar neurons. This epitope showed a restricted localization to the inner half of the external granular layer of the postnatal cerebellum, where precursor cells undergo final maturation to form synaptic contacts.ConclusionSulfs introduce dynamic changes in HS proteoglycan sulfation patterns of the postnatal cerebellum, thereby orchestrating fundamental mechanisms underlying brain development.

Why does the Iranian National Program of Screening Newborns for G6PD Enzyme Deficiency Miss a Large Number of Affected Infants?

Purpose: G6PD enzyme deficiency is one of the most prevalent genetic disorders worldwide and it has high incidence rate in Northern provinces of Iran. It was observed that national neonatal screening for G6PD enzyme deficiency fails to detect all affected infants. In order to clarify the cause, this study has been done in Thalassemia Research Center, Sari, Iran. Materials and Methods: This was a diagnostic study. The newborns with parents of Mazandarani origin were enrolled. Cord blood from the placental side was collected and used for decolorization test, quantitative enzyme assay (QEA) and DNA study. A heel-prick sample collected on day 3–5 after birth was used for fluorescent spot test (FST). In male cases, QEA was considered as the gold standard. For females, DNA study was considered as the gold standard. Based on QEA test results, neonates with <20% and 20–60% of mean normal enzyme activity were considered as total deficient and partial deficient, respectively. Results: A total of 365 neonates (52.3% females and 47.7% males) were studied. According to FST, 13 male newborns had G6PD deficiency. No deficient female was detected. Decolorization test diagnosed 18 male and one female as G6PD deficient newborns. QEA diagnosed 19 males and 28 females with G6PD enzyme deficiency (26 partial, 2 total deficient cases). DNA analysis detected 14 males as hemizygote and 34 females as heterozygote. Conclusion: FST does not have the required sensitivity for newborn screening and QEA is recommended as the preferred method.

Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects.

The pathogenesis of neonatal hyperbilirubinemia hasn't been completely defined in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient newborns. The aim of this study was to detect the relationship between Gilbert's syndrome and hyperbilirubinemia in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates. This case-control study was conducted in Amirkola pediatrics teaching hospital, Babol, Iran. A total number of one hundred four infants were included in the study (51 infants with neonatal jaundice and Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted to phototherapy or transfusion were selected as the case group and 53 infants with Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted for other reasons than jaundice were selected as the control group). Exclusion criteria were ABO or Rh incompatibility or other reasons that made Coombs test positive, sepsis, hepatosplenomegaly, metabolic diseases, medical treatment and phototherapy. The promoter and coding regions of Uridine diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) of genomic DNA were amplified by polymerase chain reaction (PCR) isolated from leukocytes. We used chi-square test and t-test to compare cases and controls. Distribution of Gilbert genome was not significantly different between the two groups; among cases, 33.3% were homozygote, 35.3% heterozygote, and 31.4% normal. Among controls, 22.6% were homozygote, 34% heterozygote, and 43.4% normal (p-value=xxx). Hyperbilirubinemia family history didn't differ significantly between these two groups. We showed that in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates, there was no significant association between Gilbert's syndrome (promoter polymorphism) and hyperbilirubinemia.

Maternal vitamin D deficiency causes smaller muscle fibers and altered transcript levels of genes involved in protein degradation, myogenesis, and cytoskeleton organization in the newborn rat

Epidemiologic data reveal associations between low serum concentrations of 25-hydroxyvitamin D (25(OH)D) and higher risk of falls and muscle weakness. Fetal stage is critical for the development of skeletal muscle, but little information is available on the impact of maternal vitamin D deficiency on muscles of offspring. To investigate the morphology and transcriptome of gastrocnemius muscle in newborns in response to maternal vitamin D deficiency, 14 female rats were fed either a vitamin D₃ deficient (0 IU/kg) or a vitamin D₃ adequate diet (1000 IU/kg) 8 weeks prior to conception, during pregnancy, and lactation. Analysis of cholecalciferol, 25(OH)D₃ and 1,25-dihydroxyvitamin D₃ show that dams fed the vitamin D deficient diet and their newborns suffered from a relevant vitamin D deficiency. Muscle cells of vitamin D deficient newborns were smaller than those of vitamin D adequate newborns (p < 0.05). Muscle transcriptome of the newborns revealed 426 probe sets as differentially expressed (259 upregulated, 167 downregulated) in response to vitamin D deficiency (fold change ≥1.5, p < 0.05). The effected genes are involved in protein catabolism, cell differentiation and proliferation, muscle cell development, and cytoskeleton organization. Maternal vitamin D deficiency has a major impact on morphology and gene expression profile of skeletal muscle in newborns.

Low-mannose-binding lectin levels in susceptibility to neonatal sepsis in preterm neonates with fetal inflammatory response syndrome

Aim. In this study, we aimed to evaluate cord blood mannose binding levels (MBL), to evaluate possible relationship between cord blood MBL levels with neonatal sepsis and culture confirmed neonatal sepsis in preterm newborn with gestational age below 34 weeks with fetal inflammatory response syndrome (FIRS).Methods. Forty-four randomly selected ≤34 weeks gestational age newborns with FIRS were evaluated. MBL deficiency was described as cord blood levels were below 400 ng/ml.Results. Mean value of umbilical cord MBL was significantly lower in newborns with culture confirmed sepsis (p < 0.01) and also all cases with sepsis (including culture negative or positive) (p < 0.05) than newborns without sepsis. Culture-confirmed sepsis was statistically common in MBL deficient premature newborns with FIRS. Univariate analysis showed that gestational age, birth weight, low serum MBL level and poor obstetric history were all significantly associated with the risk of neonatal sepsis. A subsequent multivariate analysis showed that the association between serum MBL level and the risk of suspected sepsis and culture confirmed sepsis independently from gestational age and birth weight.Conclusion. Here in, we report firstly lower MBL levels were found related with sepsis in neonates, especially in newborns with culture proven sepsis. Low MBL levels may help to identify neonates with FIRS at high risk of developing sepsis.

Prevalence of Glucose-6-Phosphate Dhydrogenase Deficient Neonates and Cost Effective of Enzyme Screening in Tehran, Iran

Background: Newborn screening is an area with potential for immense impact in lifelong morbidity and mortality. Objective: To determine cost effective for glucose-6-phosphate dehydrogenase (G-6-PD) enzyme screening and prevalence of deficiency in newborns and children in Tehran, Iran. Materials and Methods: All full term newborns, neonates with icterus and children with acute hemolysis were evaluated to determine prevalence of G-6-PD enzyme deficiency and cost effectiveness of a screening test for G-6-PD enzyme deficiency. The qualitative color reduction test performed on healthy newborns and quantitative test on newborns with icterus and children with acute hemolysis. Results: Three (2%) of 146 screened newborns were G-6-PD deficient at a cost of $ 18 for three positive screening tests and $ 856 for 143 unaffected newborns Thirty-one (11.4%) of 272 newborns readmitted with icterus were G-6-PD deficient with a cost of 31 tests were $186 and $1446 for unaffected newborns. The only significant difference between G-6-PD deficient and normal newborns was bilirubin level (p < 0.001). Eleven (0.2%) of 5054 hospitalized children were found to be G-6-PD deficient at a screening cost of $ 66 and $ 3.258 for remainder children. The prevalence of G-6-PD is estimated to be approximately 2.4% and 2.2% in males and females respectively. Conclusion: Glucose-6- phosphate dehydrogenase screening in newborns is not cost effective and for prevention of hemolysis during the next years all newborns admitted with icterus should be evaluated for G-6-PD enzyme deficiency.

59: Programmed dysfunction of neuronal stem cells in low birthweight newborns

59: Programmed dysfunction of neuronal stem cells in low birthweight newborns

Successful Treatment of Intra-Cranial Hemorrhage with Repeated Doses of Activated Recombinant FVII in a Newborn with Severe Factor VII Deficiency.

Factor VII deficiency is a rare inherited bleeding disorder. Intracranial hemorrhage can occur in approximately 1 to 10% of the cases. We report the case of a one month old girl from Lebanon who presented with vomiting, abnormal cry, lethargy and partial seizures. She was diagnosed prenatally with severe factor VII deficiency after detection of a splice-site mutation in exon 2 of the FVII gene (IVS2+1 G→C) that was described previously in her sister who died at the age of 4 months from severe intracranial hemorrhage. The parents are first degree cousins and are both heterozygous. She has a healthy heterozygous two year old sister.An emergency head CT Scan showed intra ventricular and right hemispheric intra parenchymal hemorrhage, peri-hemorrhage edema and minimal midline shift. The patient was placed immediately on mechanical ventilation and anti-epileptics and activated recombinant factor VII (rFVIIa, NovoSeven) was administered intra-venously at 60 ug/kg for the first dose then 30 ug/kg/dose every 4 to 6 hours for 10 days then once a day for 5 days. She was treated conservatively with no surgery. Stabilization of the hematoma was observed with gradual improvement of her neurological condition. Communicating hydrocephalus developed later and a ventriculo-peritoneal shunt was placed on day 16 post-hemorrhage. Subsequently, she received weekly infusions of rFVIIa at 30 ug/kg/dose for 4 weeks after this episode and showed no bleeding symptoms. Follow-up two months later showed axial hypotonia and a mild left sided spasticity. Auditory evoked potentials were normal. However, afte prophylactic rFVIIa was dicontinued, the patient developed sub-arachnoid hemorrhage and was placed again on weekly prophylactic infusions of rFVIIa at 30 ug/kg/dose. The patient tolerated the infusions very well. No side-effects were observed.Conclusion: rFVIIa is safe and effective in Factor VII deficient newborns with intracranial hemorrhage. Rapid treatment at the onset of hemorrhage is critical to reduce mortality and improve the outcome. Prophylactic factor VII infusions can be proposed in this setting to minimize the risk of subsequent bleeding episodes. The ideal dosing and schedule for treatment and/or prophylaxis will have to be defined. Despite the short half-life of rFVIIa, weekly infusions in our experience seemed safe and effective in reducing the incidence of further bleeding episodes.

Interleukin‐1α, tumor necrosis factor‐α, and interleukin‐12 secreted by zinc‐induced murine macrophages in vivo and in vitro

AbstractOral treatment of zinc modulates cytokine secretion during the gestation, lactation, and weaning periods. We used a experimental mice model of zinc supplementation during the perinatal stages to study the effects of this ion over the production of interleukin IL‐1α, IL‐12, and tumor necrosis factor‐alpha by peritoneal macrophages. In addition, we determined the gene expression of these cytokines. Zinc (500 mg/L) was orally administered to mice from gestation to lactation (6‐week treatment, Zn+) and weaning (9‐week treatment). The serum cytokines IL‐1α and IL‐12 were assayed in the offspring at 21 and 42 days after birth. Our results showed a significant (P &lt; 0.01) increase in cytokine production in the Zn+ animals at the end of the lactation stage. There was a tendency for the IL‐1 concentration to decrease at postweaning; nevertheless, IL‐12 concentrations were increased in mice at 42 days of age (P &lt; 0.001). The production of IL‐1α, IL‐12, and tumor necrosis factor‐alpha in the macrophages supernatants in vitro followed the same tendencies (P &lt; 0.001). Molecular analysis showed an increase of mRNA synthesis in all cases, from 4‐fold to 6‐fold, in the cytokines analyzed. Our results suggest that the increase in the proinflammatory cytokines as a result of zinc administration may potentiate Th1 cells response, which could lead to the increase of cytokine production in deficient newborns. J. Trace Elem. Exp. Med. 17:123–135, 2004. © 2004 Wiley‐Liss, Inc.

Predicting Significant Hyperbilirubinaemia and Early Discharge for Glucose-6-Phosphate Dehydrogenase Deficient Newborns

Introduction: This study aims to assess the usefulness of day 3 (49 to 72 hours) pre-phototherapy total serum bilirubin (TSB) in predicting subsequent significant hyperbilirubinaemia (SHB) and the feasibility of early discharge for term and near-term glucose-6-phosphate dehydrogenase (G6PD) deficient newborns. Materials and Methods: This prospective cohort study involved inborn G6PD deficient neonates who were &gt;35 weeks and weighed &gt;2000 g at birth. TSB levels and phototherapy requirements in their first two weeks of life were studied. Day 3 pre-phototherapy TSB in the subgroup weighing &gt;2500 g at birth was analysed for its value in predicting subsequent SHB. Results: Of the 129 neonates, 58 (45%) required phototherapy in the first week. Of these, only 4 patients (3.1%) needed phototherapy to be restarted in the second week. Seventy-one (55%) neonates did not require phototherapy at all. In the absence of SHB in the first week, the probability of its development in the second week was zero (95% confidence interval, 0 to 0.057). In the subgroup weighing &gt;2500 g at birth, day 3 prephototherapy TSB &lt;154 umol/L predicted no measurable risk of subsequent SHB (sensitivity, 100%; 95% confidence interval, 91.4% to 100%; negative predictive value, 100%; 95% confidence interval, 86.7% to 100%). Conclusions: G6PD deficient newborns without SHB in their first week of life were at no measurable risk of its development in the second week. Day 3 pre-phototherapy TSB in the subgroup weighing &gt;2500 g was useful for predicting the risk of subsequent SHB. Low-risk infants, thus identified, may be eligible for discharge on or before day 7 of life. Evidence-based early discharge can decrease the social and financial burden of G6PD deficiency in Singapore.

Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome

The aim of this work was to evaluate the influence of abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variant, on the incidence and severity of neonatal hyperbilirubinemia, in glucose-6-phosphate dehydrogenase (G6PD) deficient newborns. The A(TA)nTAA region in the promoter of the UGT1A1 gene was analysed in 20 children with G6PD deficiency. Fourteen of these children had the African type variant (G6PDA-) and 6 had different variants (G6PDNara, G6PDGuadalajara, G6PDDurham, G6PDTomah, G6PDAveiro e G6PDNashville) related to chronic nonspherocytic haemolytic anaemia (CNSHA). The existence of a positive history of neonatal hyperbilirubinemia, as well as its severity was registered. The incidence of neonatal hyperbilirubinemia was increased in this group of children (90%) and was not associated with abnormal alleles of the UGT1A1 gene. It was not possible to assess the influence of abnormal alleles in the severity of the neonatal hyperbilirubinemia. However, these abnormal alleles did not account for the severity of jaundice in children who presented variants related to CNSHA, since 5 were treated with an exchange transfusion and none presented abnormal alleles.

98 PLASMA CERULOPLASMIN (CP) LEVELS IN NEWBORN INFANTS WITH SEVER JAUNDICE (J) OF UNKNOWN ETILOGY AND WITH J DUE TO GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G6PD) DEFICIENCY

The role of liver immaturity in the pathogenesis of severe J in G6PD deficient newborns is debated. Plasma levels of CP, a protein synthesized by the liver, could provide an assessment of hepatic immaturity. CP was measured by nephelometry in cord-blood in 4 Groups of newborns either without J (maximum serum bilirubin <8 mg/dl) or with J (max.bilirubin >15 mg/dl) :Group 1),20 full-term without J; Group 2), 20 full-term with J of unknown etiology;Group 3), 12 G6PD deficient without J;Group 4), 12 G6PD deficient with J. Mean CP levels in Groups 2) and 4) were significantly lower than in 1) and 3) (p<0.05). CP was also measured on day 2-3 in 3 Groups of infants: Group 5), 26 full-term without J;Group 6),36 full-term with J;Group 7), 31 G6PD deficient with J.Mean CP levels in Groups 6) and 7) were significantly lower than in 5), (p<0.05). These results, and our previous observations of an elevated α-Fetoprotein level in cord-blood of newborns with J (*), suggest that liver immaturity plays an important role in the genesis of J in both normal and G6PD deficient newborns. They also suggest the possibility of identifying at birth those infants who are at risk of severe J requiring treatment. (*) Ped.Res.22:225, 1987 and 24:268, 1988.

G6PD deficiency in newborn infants.

Five hundred consecutive newborns were screened for erythrocytic G6PD deficiency in cord blood. The overall incidence of G6PD deficiency was found to be 2.80 percent. The incidence of G6PD deficiency was higher among males (3.77%) compared to females (1.44%). The incidence of erythrocytic G6PD deficiency was higher in Muslims (16.67%) compared to Hindus (2.63%). No definite relationship of erythrocytic G6PD deficiency was observed with consanguinity. Fifty per cent mothers of G6PD deficient newborns were also found to be G6PD deficient. Among brothers and sisters of G6PD deficient children the incidence of G6PD deficiency was 50.00 and 9.10 per cent respectively. There was no significant difference in the incidence of hyperbilirubinemia between erythrocytic G6PD deficient and non deficient newborns.

Distribution of ABO and Rhesus Blood Groups in G6PD Deficient Chinese and Malay Newborns

The distribution of ABO blood groups was studied in 459 Chinese and 65 Malay newborns with deficiency of G6PD, and in 1181 Chinese and 535 Malay newborns with normal levels of the enzyme. Similarly, the distribution of Rhesus blood groups was studied in 248 G6PD deficient Chinese newborns and in 255 normal subjects. No association between the ABO blood groups and G6PD deficiency was observed in either Chinese or Malays. For the Rhesus system there was found to be a statistically significant decrease in the frequency of genotypes containing the complex R1, in G6PD deficient subjects compared with that in normal subjects.