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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...

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Autores principales: Athanasiadou, Kleoniki I., Amarantidou, Maria, Drogouti, Eftychia, Economou, Marina, Mitsiakos, George, Papakonstantinou, Evgenia, Karagianni, Paraskevi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
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.
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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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