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

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 screeni...

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Autores principales: Ohlsson, Annika, Rehnholm, Katarina, Shubham, Kumar, von Döbeln, Ulrika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510223/
https://www.ncbi.nlm.nih.gov/pubmed/33072997
http://dx.doi.org/10.3390/ijns5040038
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author Ohlsson, Annika
Rehnholm, Katarina
Shubham, Kumar
von Döbeln, Ulrika
author_facet Ohlsson, Annika
Rehnholm, Katarina
Shubham, Kumar
von Döbeln, Ulrika
author_sort Ohlsson, Annika
collection PubMed
description 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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spelling pubmed-75102232020-10-15 Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants Ohlsson, Annika Rehnholm, Katarina Shubham, Kumar von Döbeln, Ulrika Int J Neonatal Screen Article 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. MDPI 2019-10-29 /pmc/articles/PMC7510223/ /pubmed/33072997 http://dx.doi.org/10.3390/ijns5040038 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Ohlsson, Annika
Rehnholm, Katarina
Shubham, Kumar
von Döbeln, Ulrika
Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
title Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
title_full Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
title_fullStr Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
title_full_unstemmed Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
title_short Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants
title_sort incidence of glucose-6-phosphate dehydrogenase deficiency among swedish newborn infants
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510223/
https://www.ncbi.nlm.nih.gov/pubmed/33072997
http://dx.doi.org/10.3390/ijns5040038
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