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Open AccessArticle

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

Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna, SE-171 76 Stockholm, Sweden
Department of Medical Biochemistry and Biophysics, Division of Molecular Metabolism, Karolinska Institute, SE-171 77 Stockholm, Sweden
Department of Anesthesiology and Intensive Care, Mälarsjukhuset, SE-631 88 Eskilstuna, Sweden
LabSystems Diagnotics Oy, Tiilitie 3, FIN-01720 Vantaa, Finland
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2019, 5(4), 38;
Received: 23 September 2019 / Revised: 25 October 2019 / Accepted: 29 October 2019 / Published: 29 October 2019
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. View Full-Text
Keywords: glucose-6-phosphate dehydrogenase deficiency; newborn screening; mutations glucose-6-phosphate dehydrogenase deficiency; newborn screening; mutations
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Ohlsson, A.; Rehnholm, K.; Shubham, K.; von Döbeln, U. Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants. Int. J. Neonatal Screen. 2019, 5, 38.

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