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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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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. |
format | Online Article Text |
id | pubmed-7510223 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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