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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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Detalles Bibliográficos
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
Descripción
Sumario: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.