2017 Prevalensi Def G6PD Dengan Hiperbilirubinemia PDF
2017 Prevalensi Def G6PD Dengan Hiperbilirubinemia PDF
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Original Article
Sinha, et al.: To study the prevalence of Glucose 6 phosphate dehydrogenase deficiency in neonates with neonatal hyperbilirubinemia
phosphate (NADPH). NADPH maintains glutathione nontoxic level. The phototherapy machine used was
in its reduced form, which acts as a scavenger for double surface LED with irradiance of 8 mcw/cm2/
dangerous oxidative metabolites. The erythrocytes nm. The neonates were discharged after the levels were
do not generate NADPH in any other way; they are nontoxic and there was no rebound of jaundice. The
more susceptible than other cells to destruction from parents were counseled about the use of certain drugs
oxidative stress. The most common clinical feature which can cause hemolysis.
of G6PD deficiency is a lack of symptoms. However,
Statistical method
in symptomatic neonates, the presenting features are
The collected data were analyzed using Statistical
neonatal jaundice and/or acute hemolytic anemia.
Package for the Social Sciences software version 16
Jaundice usually appears by age 1–4 days, at the same
(IBM, India). For data analysis, mean, standard
time as or slightly earlier than physiological jaundice.
deviation, Student’s t‑test, and Chi‑square test were
The prevalence of neonatal hyperbilirubinemia is twice
that of the general population[2] in males who carry the used. P < 0.05 was considered statistically significant.
defective gene and in homozygous females. It rarely
occurs in heterozygous females.[3,4] Infants with the
Results
severe variant of G6PD deficiency may develop severe The result analysis showed ten (2.5%) neonates with
hyperbilirubinemia to cause kernicterus.[5,6] indirect hyperbilirubinemia were G6PD deficient. There
was a significant statistical difference between G6PD
Aim of the study deficient and non‑G6PD deficient group in terms of
To study the prevalence of G6PD deficiency in neonates indirect bilirubin levels, duration of phototherapy, and
with neonatal hyperbilirubinemia and to compare the gender as G6PD affect only males. However, there
course of neonatal jaundice in G6PD deficient versus was no difference in terms of onset of jaundice, day of
nondeficient neonates. life and gestational age of neonates, and reticulocyte
count [Tables 1 and 2].
Materials and Methods
A total of 400 neonates with indirect hyperbilirubinemia Discussion
were screened for G6PD deficiency from May 2014 G6PD deficiency is an X‑linked recessive disorder, the
to April 2016 in a Military Zonal Hospital of Jodhpur most common enzyme deficiency worldwide, affecting
(Rajasthan). There were 165 female and 235 male around 400 million people. It can cause a spectrum
neonates whose age varied from 2 to 10 days of life. of disease including neonatal hyperbilirubinemia,
A written informed consent was obtained before the acute hemolysis, and chronic hemolysis. The gene
study. that codes for G6PD is located in the distal long arm
Inclusion criteria of the X chromosome at the Xq28 locus. The G6PD
All neonates with indirect hyperbilirubinemia with gene is 18 kb long with 13 exons, and the G6PD
serum bilirubin >12 mg% were included in the study. enzyme has 515 amino acids. More than 60 mutations
in the G6PD gene have been documented. The World
Exclusion criteria
Health Organization has classified the different G6PD
All neonates with <35 weeks of gestation and serum variants according to the degree of enzyme deficiency
bilirubin <12 mg% and also neonates with direct and severity of hemolysis, into Classes I‑V. Class I
hyperbilirubinemia, polycythemia, sepsis, ABO/Rh deficiencies are the most severe. G6PD Mediterranean
incompatibility, and physiological jaundice (total serum deficiency usually is a Class II deficiency and
bilirubin was <12 mg% and jaundice subsided by day G6PD A deficiency is a Class III deficiency. Classes
10 of life) were also excluded from the study. IV and V are of no clinical significance. It has
All cases were subjected to detail history and clinical been reported that one‑third of children with G6PD
examination as per predesigned pro forma. Each neonate deficiency develop neonatal jaundice.[7,8] In our study,
was subjected to blood test which included total and 2.5% of neonatal jaundice cases were due to G6PD
direct bilirubin, complete blood count, reticulocyte deficiency all of them responded to treatment with
count, direct Coombs test, maternal and neonatal phototherapy except two in whom serum bilirubin rise
blood group/Rh factor, and G6PD enzyme assay. The required further treatment with an exchange transfusion.
G6PD deficiency was screened by qualitative test, and The prevalence of G6PD in neonates with indirect
neonates found deficient were subjected to quantitative hyperbilirubinemia varies worldwide according to
test. The phototherapy was started as per Bhutani chart, ethnic variations. Our finding of 2.5% of the cases of
and it was stopped when total serum bilirubin reached neonatal indirect hyperbilirubinemia was the result of
Sinha, et al.: To study the prevalence of Glucose 6 phosphate dehydrogenase deficiency in neonates with neonatal hyperbilirubinemia
Sinha, et al.: To study the prevalence of Glucose 6 phosphate dehydrogenase deficiency in neonates with neonatal hyperbilirubinemia