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G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome
G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemol...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603846/ https://www.ncbi.nlm.nih.gov/pubmed/34643346 http://dx.doi.org/10.34763/jmotherandchild.20212501.d-20-00021 |
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author | Athanasiadou, Kleoniki I. Amarantidou, Maria Drogouti, Eftychia Economou, Marina Mitsiakos, George Papakonstantinou, Evgenia Karagianni, Paraskevi |
author_facet | Athanasiadou, Kleoniki I. Amarantidou, Maria Drogouti, Eftychia Economou, Marina Mitsiakos, George Papakonstantinou, Evgenia Karagianni, Paraskevi |
author_sort | Athanasiadou, Kleoniki I. |
collection | PubMed |
description | G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances. G6PD Harilaou is a new variant that was first described in Greece in an eight-year-old boy who suffered chronic haemolysis demanding multiple transfusions. We present a new case of the G6PD Harilaou variant in a Greek male neonate who suffered severe intrauterine haemolysis and passed away 39 hours after birth. To our knowledge, it is the second reported G6PD Harilaou case. |
format | Online Article Text |
id | pubmed-8603846 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Sciendo |
record_format | MEDLINE/PubMed |
spelling | pubmed-86038462021-11-19 G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome Athanasiadou, Kleoniki I. Amarantidou, Maria Drogouti, Eftychia Economou, Marina Mitsiakos, George Papakonstantinou, Evgenia Karagianni, Paraskevi J Mother Child Clinical Report G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances. G6PD Harilaou is a new variant that was first described in Greece in an eight-year-old boy who suffered chronic haemolysis demanding multiple transfusions. We present a new case of the G6PD Harilaou variant in a Greek male neonate who suffered severe intrauterine haemolysis and passed away 39 hours after birth. To our knowledge, it is the second reported G6PD Harilaou case. Sciendo 2021-10-11 /pmc/articles/PMC8603846/ /pubmed/34643346 http://dx.doi.org/10.34763/jmotherandchild.20212501.d-20-00021 Text en © 2021 Kleoniki I. Athanasiadou, MD et al. published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License. |
spellingShingle | Clinical Report Athanasiadou, Kleoniki I. Amarantidou, Maria Drogouti, Eftychia Economou, Marina Mitsiakos, George Papakonstantinou, Evgenia Karagianni, Paraskevi G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome |
title | G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome |
title_full | G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome |
title_fullStr | G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome |
title_full_unstemmed | G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome |
title_short | G6PD Deficiency and Harilaou Variant in a Newborn: Intrauterine Haemolysis and Meconium Aspiration Syndrome |
title_sort | g6pd deficiency and harilaou variant in a newborn: intrauterine haemolysis and meconium aspiration syndrome |
topic | Clinical Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603846/ https://www.ncbi.nlm.nih.gov/pubmed/34643346 http://dx.doi.org/10.34763/jmotherandchild.20212501.d-20-00021 |
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