Influence of the Inherited Glucose-6-phosphate Dehydrogenase Deficiency on the Appearance of Neonatal Hyperbilirubinemia in Southern Croatia

Cherepnalkovski, Anet Papazovska; Marušić, Eugenija; Piperkova, Katica; Lozić, Bernarda; Skelin, Ana Kuzmanić; Gruev, Todor; Krželj, Vjekoslav

doi:10.5455/aim.2015.23.264-267

Cited by 4 publications

(9 citation statements)

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“…The median (interquartile range) age of presentation of jaundice was at day 3 (3-4) ( Table 3). In the group of undefined etiology, the median (interquartile range) day at which bilirubin reached its peak was 9 (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17). The median (interquartile range) of the peak TSB level was 324 (270-394) μmol/L, whereas the mean ± standard deviation (SD) peak serum bilirubin concentration was 333.4 ± 91.1 μmol/L.…”

Section: Undefined Etiology Of Jaundicementioning

confidence: 99%

“…Moreover, the day of the bilirubin peak was noted, as well as two subsequent bilirubin measurements. Standard techniques for analysis of blood count and smear, bilirubin and fractions, serum aminotransferases, and G6PD, as well as infants' and mothers' blood group and direct antiglobulin Coombs test (DAT), were applied as described elsewhere [12,28]. Statistical Package for the Social Sciences (SPSS) for Windows (SPSS Inc., Chicago, IL, USA) was used for the statistical analyses.…”

Section: Neonatal Hyperbilirubinemia In the Republic Of North Macedoniamentioning

confidence: 99%

“…Moreover, other assumed triggers of hemolysis, such as fava transmitted through human breast milk, chemical cleansers, bacterial and viral infections, and henna applied to the newborn's skin in some cultures of the Middle East, have been described into association with G6PD deficiency-linked neonatal hyperbilirubinemia. However, the hematological markers of hemolysis such as hemoglobin and hematocrit (Hct) values and reticulocyte count have only occasionally been reduced in infants with G6PD deficiency-associated hyperbilirubinemia [11,12]. It has been shown that inadequate conjugation capacity of the liver mainly contributes to development of neonatal jaundice in G6PD-deficient infants [12][13][14].…”

mentioning

confidence: 99%

“…However, the hematological markers of hemolysis such as hemoglobin and hematocrit (Hct) values and reticulocyte count have only occasionally been reduced in infants with G6PD deficiency-associated hyperbilirubinemia [11,12]. It has been shown that inadequate conjugation capacity of the liver mainly contributes to development of neonatal jaundice in G6PD-deficient infants [12][13][14]. This has been proven by significantly lower total serum bilirubin level as well as mono-and di-conjugated bilirubin fractions in G6PD-deficient newborns that developed hyperbilirubinemia than the non-hyperbilirubinemic G6PD-deficient newborns [13].…”

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confidence: 99%

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Neonatal Hyperbilirubinemia in Newborns of the Republic of North Macedonia

Cherepnalkovski¹,

Aluloska²,

Zdraveska³

et al. 2020

Update on Critical Issues on Infant and Neonatal Care

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Neonatal indirect hyperbilirubinemia is one of the most frequent neonatal problems that affect almost two thirds of term infants. Although etiology of jaundice has been widely studied, identification of pathological causes presents constant clinical challenge. Our study group performed an extensive retrospective study of etiology of neonatal hyperbilirubinemia and showed high frequency (44.37%) of jaundice of undefined etiology. The group included exaggerated physiological jaundice, earlyand late-onset breast-milk jaundice, and no identifiable etiology. Other etiologies were neonatal infection, prematurity, birth trauma, and hemolysis represented with 15%. We described hematological parameters in both non-hemolytic and hemolytic type of jaundice; a significant correlation of relevant laboratory findings with etiology was established. In this chapter we will present our own data and perform a data-relevant literature review. Furthermore, investigation and management plan of neonatal indirect hyperbilirubinemia will be presented in accordance with own data and available literature.

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Section: Undefined Etiology Of Jaundicementioning

confidence: 99%

Section: Neonatal Hyperbilirubinemia In the Republic Of North Macedoniamentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Neonatal Hyperbilirubinemia in Newborns of the Republic of North Macedonia

Cherepnalkovski¹,

Aluloska²,

Zdraveska³

et al. 2020

Update on Critical Issues on Infant and Neonatal Care

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“…Heterozygous females who are G6PD deficient are genetic mosaics as an effect of X-chromosome inactivation; the abnormal cells of a heterozygous female can be as deficient for G6PD as similar to a G6PD-deficient male: consequently, such females can be vulnerable to the equivalent pathophysiological phenotype. While heterozygous females typically have less severe clinical presentations than G6PD-deficient males, yet some may develop severe acute hemolytic anemia [7,8] .…”

Section: Inheritance Patternsmentioning

confidence: 99%

An Overview of the Most Common Enzyme Defect, Glucose-6-Phosphate-Dehydrogenase Deficiency

Muzaffar

Boundaqji

Khatib

et al. 2018

Egyptian Journal of Hospital Medicine

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Background: Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency globally and is more remarkable in certain parts of the world which had high malaria prevalence in the past. It is an X-linked genetically inherited disorder, where the first presentation can be neonatal jaundice. There are over 300 variants of this disorder based upon the genetics. Although the morbidity and mortality is not very high, the deficiency can be more appropriately managed by proper preventive methods which include screening and avoidance of trigger. Also prompt management of acute hemolysis can save a child from many complications. Methodology: we conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE from January 1987 to March 2017. The following search terms were used: G6PD deficiency, prevalence of G6PD, genetics of G6PD deficiency, management and diagnosis of G6PD Aim of the work: this study aimed to understand about the etiology, pathophysiology and study various lines of prevention and management of G6PD deficiency in pediatric age group. Conclusion: proper preventive and treatment methods can avoid negative effects on the child's quality of life and reduce morbidity and mortality, therefore the child's care takers must be well informed.

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Prevalence of 563 C – T& 131 C-G G6PD polymorphisms in term and late preterm neonates with significant unconjugated hyperbilirubinemia from a tertiary level care neonatal unit in Uttarakhand

Chacham¹,

Chaudhary²,

Naithani

et al. 2022

Indian J Child Health

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Objectives: This study aimed to estimate the frequency of Glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant (563 C->T) and G6PD Odisha (131 C->G) variants along with the prevalence of G6PD deficiency quantitatively. This study also estimated peak serum total bilirubin level and duration of phototherapy and correlated with the G6PD levels and G6PD mutations. Methods: All the consecutive term and late pre-term neonates of either gender with significant hyperbilirubinemia were enrolled after written informed consent and were screened for G6PD deficiency (quantitatively). These neonates were also evaluated for G6PD gene polymorphisms. Exclusion criteria: Neonates with congenital anomalies or conjugated hyperbilirubinemia and those who received treatment before enrollment were excluded from this study. Results: A total of 150 infants with hyperbilirubinemia were enrolled. Males were two-thirds. Median G6PD levels were 11.9 units/gm of Hb (Inter quartile range [IQR]: 9.4–16.2). The prevalence of G6PD deficiency in our study population was 24% among the whole population and 30.6% in male infants. As per the World Health Organization (WHO) classification, majority (94%) were in class IV, 5.3% (n=8) had WHO Class III. All the eight infants in Class III were males. Mean (SD) and median serum bilirubin levels were 16.7 (1.1) mg/dL. Median duration of phototherapy was 24 h. Gene polymorphisms were done in 119 neonates. G6PD Mediterranean mutations were seen in 6.7% and G6PD Orissa mutations were seen in 4.2% neonates. There was a good correlation between G6PD deficiency and serum total bilirubin, mean duration of phototherapy and gender. Conclusion: This study reported 24% prevalence of G6PD deficiency among the study population with 6.7% prevalence of G6PD Mediterranean mutations and 4.2% prevalence of G6PD Orissa mutations.

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Influence of the Inherited Glucose-6-phosphate Dehydrogenase Deficiency on the Appearance of Neonatal Hyperbilirubinemia in Southern Croatia

Cited by 4 publications

References 25 publications

Neonatal Hyperbilirubinemia in Newborns of the Republic of North Macedonia

Neonatal Hyperbilirubinemia in Newborns of the Republic of North Macedonia

An Overview of the Most Common Enzyme Defect, Glucose-6-Phosphate-Dehydrogenase Deficiency

Prevalence of 563 C – T& 131 C-G G6PD polymorphisms in term and late preterm neonates with significant unconjugated hyperbilirubinemia from a tertiary level care neonatal unit in Uttarakhand

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