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Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations. OBJECTIVE: To determine the local prevalence of G6PD deficiency in newborns. DESIGN: C...

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Autores principales: Elella, Soheir Abo, Tawfik, Mahaa, Barseem, Naglaa, Moustafa, Wafaa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074198/
https://www.ncbi.nlm.nih.gov/pubmed/28988250
http://dx.doi.org/10.5144/0256-4947.2017.362
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author Elella, Soheir Abo
Tawfik, Mahaa
Barseem, Naglaa
Moustafa, Wafaa
author_facet Elella, Soheir Abo
Tawfik, Mahaa
Barseem, Naglaa
Moustafa, Wafaa
author_sort Elella, Soheir Abo
collection PubMed
description BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations. OBJECTIVE: To determine the local prevalence of G6PD deficiency in newborns. DESIGN: Cross-sectional. SETTING: University hospital. METHODS: Infants born during 2015 were prospectively screened for G6PD deficiency. Dried blood spot samples on filter paper were collected in collaboration with the central laboratories of the Ministry of Health. Quantitative measurement of G6PD enzyme activity was measured from the blood samples using fluorometric analysis. A value ≤1.3 U/g hemoglobin (Hb) was considered G6PD deficient. MAIN OUTCOME MEASURE(S): G6PD enzyme activity (U/g Hb). RESULTS: Of 2782 screened newborns (1453 males and 1329 females), 2646 (95.1%) newborns were normal, 17 (0.6%) exhibited intermediate deficiency; 119 newborns (91 male newborns; 28 female newborns) were deficient for G6PD for an overall prevalence of G6PD deficiency of 4.3% with a male:female ratio of 3.2:1. Enzyme activity was significantly higher in males than females (P<.014). CONCLUSION: The overall prevalence of G6PD deficiency emphasizes the importance of neonatal screening for early detection and prevention together with proper intervention and genetic counseling. LIMITATION: Lacked authority to collect the samples for testing directly from the local centers.
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spelling pubmed-60741982018-09-21 Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt Elella, Soheir Abo Tawfik, Mahaa Barseem, Naglaa Moustafa, Wafaa Ann Saudi Med Original Article BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations. OBJECTIVE: To determine the local prevalence of G6PD deficiency in newborns. DESIGN: Cross-sectional. SETTING: University hospital. METHODS: Infants born during 2015 were prospectively screened for G6PD deficiency. Dried blood spot samples on filter paper were collected in collaboration with the central laboratories of the Ministry of Health. Quantitative measurement of G6PD enzyme activity was measured from the blood samples using fluorometric analysis. A value ≤1.3 U/g hemoglobin (Hb) was considered G6PD deficient. MAIN OUTCOME MEASURE(S): G6PD enzyme activity (U/g Hb). RESULTS: Of 2782 screened newborns (1453 males and 1329 females), 2646 (95.1%) newborns were normal, 17 (0.6%) exhibited intermediate deficiency; 119 newborns (91 male newborns; 28 female newborns) were deficient for G6PD for an overall prevalence of G6PD deficiency of 4.3% with a male:female ratio of 3.2:1. Enzyme activity was significantly higher in males than females (P<.014). CONCLUSION: The overall prevalence of G6PD deficiency emphasizes the importance of neonatal screening for early detection and prevention together with proper intervention and genetic counseling. LIMITATION: Lacked authority to collect the samples for testing directly from the local centers. King Faisal Specialist Hospital and Research Centre 2017 /pmc/articles/PMC6074198/ /pubmed/28988250 http://dx.doi.org/10.5144/0256-4947.2017.362 Text en Copyright © 2017, Annals of Saudi Medicine This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Original Article
Elella, Soheir Abo
Tawfik, Mahaa
Barseem, Naglaa
Moustafa, Wafaa
Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt
title Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt
title_full Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt
title_fullStr Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt
title_full_unstemmed Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt
title_short Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt
title_sort prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in egypt
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074198/
https://www.ncbi.nlm.nih.gov/pubmed/28988250
http://dx.doi.org/10.5144/0256-4947.2017.362
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