Glucose-6-Phosphate Dehydrogenase Deficiency in Maltese Newborn Infants

Eight hundred and six newborn infants at high risk for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were screened; 30.2% of the boys and 10.4% of the girls had severe G-6-PD deficiency. Surprisingly, 14% of the enzyme deficient girls had a father from a low risk ethnic group. Girls of high risk mothers should be screened for G-6-PD deficiency regardless of paternal origin.

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Screening for glucose-6-phosphate dehydrogenase deficiency as a preventive measure: Prevalence among 1,286,000 Greek newborn infants

The Journal of Pediatrics ◽

10.1016/s0022-3476(05)80747-4 ◽

1991 ◽

Vol 119 (2) ◽

pp. 293-299 ◽

Cited By ~ 40

Author(s):

S. Missiou-Tsagaraki

Keyword(s):

Dehydrogenase Deficiency ◽

Newborn Infants ◽

Preventive Measure ◽

Glucose 6 Phosphate Dehydrogenase

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FREQUENCY OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN NEONATAL JAUNDICE IN DISTRICT SWAT, PAKISTAN

Journal of Saidu Medical College, Swat ◽

10.52206/jsmc.2013.3.1.242-247 ◽

1969 ◽

Vol 3 (1) ◽

pp. 242-247

Author(s):

AMREEK LAL ◽

S.M.NAEEM ◽

SHAHJEHAN ◽

ASHFAQ AHMAD ◽

ISRARUL HAQ

Keyword(s):

G6pd Deficiency ◽

Neonatal Jaundice ◽

Dehydrogenase Deficiency ◽

Reduction Method ◽

Serum Bilirubin ◽

Newborn Infants ◽

Dye Reduction ◽

Complete Blood Counts ◽

Deficiency Screening ◽

Glucose 6 Phosphate Dehydrogenase

Background: Hyperbilirubinemia is the most common cause of neonatal jaundice. Severe neonatalhyperbilirubinemia and kemicterus continue to be reported worldwide in otherwise healthy term infants.We conducted this study to estimate the incidence of severe neonatal hyperbilirubinemia and to determineunderlying causes, improved knowledge of which would be valuable to help identify strategies for riskreduction.Methods: 100 infants of both sexes, of the age between 1-28 days, with no infection and Rh incompatibilitywere included in the study. The activity of G6PD was determined by a dye-reduction method screening testdevised by Sigma Diagnostics USA. Complete blood counts (CBC) with reticulocyte count, serum bilirubin(total and indirect) were performed and the results were recorded for further analyses.Results: Out of the total 100 subjects, classified in two groups on the basis of presence of jaundice, 14 (14%)were G6PD deficient. The frequency of G6PD deficiency was markedly prominent, in neonates withjaundice.Discussion: G6PD deficiency is one of the major causes of jaundice in neonates. The study area also have aconsiderable number of G6PD deficient individuals. This indicates a need for a more thorough assessmentof newborn infants and consideration of strategies to identify at-risk newborns, such as pre-dischargemeasurement of serum bilirubin levels and G6PD deficiency screening.

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Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants

International Journal of Neonatal Screening ◽

10.3390/ijns5040038 ◽

2019 ◽

Vol 5 (4) ◽

pp. 38

Author(s):

Ohlsson ◽

Rehnholm ◽

Shubham ◽

Döbeln

Keyword(s):

Sanger Sequencing ◽

Birth Rate ◽

Dehydrogenase Deficiency ◽

Newborn Infants ◽

Common Disease ◽

Total Birth ◽

Total Birth Rate ◽

The Mean ◽

Glucose 6 Phosphate Dehydrogenase ◽

Blood Spot

Sweden has 10.2 million inhabitants and more than 2.4 million have a foreign background. A substantial number of immigrants come from countries where glucose-6-phosphate dehydrogenase deficiency (G6PDD) is frequent. The total birth rate annually in Sweden is approximately 117,000 and newborn screening is centralized to one laboratory. We determined glucose-6-phosphate dehydrogenase (G6PD) activity in 10,098 dried blood spot samples (DBS) from the whole country with a fluorometric assay (LabSystems Diagnostics Oy, Finland). The first 5451 samples were anonymised and run as singletons, whilst the following 4647 samples were coded. Enzyme activity ≤40% of the mean of the day was found in 58 samples (1/170) and among these, 29 had activities ≤10% (1/350). Twenty-nine samples with residual activities between 2–39% in the coded cohort were subjected to Sanger sequencing. Disease-causing variants were identified in 26 out of 29 infants, of which six were girls. In three patients, we did not find any disease-causing variants, although two patients were hemizygous for the known polymorphisms c.1311T>C and c.1365-13C>T. The most common disease-causing variant found in 15 of the 29 samples (12 hemizygotes, two heterozygotes, one homozygote) was the Mediterranean mutation, c.563C>T (p.(Ser188Phe)) in exon 6. G6PDD is thus a surprisingly prevalent disorder in Sweden.

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