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CONICET Digital
Article . 2022
License: CC BY NC SA
Data sources: CONICET Digital
Bioquímica y Patología Clínica
Article . 2022 . Peer-reviewed
Data sources: Crossref
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Mutaciones en el gen HFE y estado del hierro en voluntarios sanos del noroeste argentino

Authors: Monaco, Maria Eugenia; Alvarez Asensio, Natalia Sofía; Haro, Ana Cecilia; Teran, Magdalena María; Ledesma Achem, Myriam Emilia; Isse, Blanca Alicia de Los Angeles G.; Lazarte, Sandra Stella;

Mutaciones en el gen HFE y estado del hierro en voluntarios sanos del noroeste argentino

Abstract

Introducción: La proteína HFE (Human hemochromatosis protein) es codificada por el gen HFE y participa en la regulación del metabolismo del hierro. Tres variantes alélicas del gen HFE se han correlacionado con la hemocromatosis hereditaria: C282Y, H63D y S65C. Objetivos: Establecer la prevalencia de las mutaciones más frecuentes en el gen HFE en una población de individuos aparentemente sanos y estudiar su relación con el metabolismo del hierro. Materiales y Métodos: Sesenta y nueve individuos (48 mujeres y 21 hombres) fueron analizados durante el período de septiembre de 2015 a agosto de 2018 en Tucumán, Argentina. Se determinó hemograma, hierro, transferrina, saturación y ferritina. Las mutaciones en el gen HFE se efectuaron mediante PCR en tiempo real. Resultados: La prevalencia fue del 28 % (19/69; IC95% = 18-39%). El 9 % (6/69) presentó mutación heterocigota C282Y y 19 % (13/69; 11 heterocigotos y 2 homocigotos), en codón 63 (H63D). No se detectó la mutación S65C. En los individuos que no portaban mutación, los parámetros de la serie roja y el análisis de hierro fueron más altos en los hombres que en las mujeres (p< 0,05). No hubo diferencias significativas en el metabolismo del hierro entre los voluntarios sanos y los portadores de C282Y o H63D (p> 0,05). Conclusiones: Este es el primer estudio que muestra la frecuencia de las tres variantes del gen de la hemocromatosis en el noroeste argentino.La mutación más prevalente fue la H63D. La presencia de la mutación en el gen HFE no resultó en una sobrecarga bioquímica significativa de hierro.

Country
Argentina
Keywords

DESORDENES DEL METABOLISMO DEL HIERRO, C282Y, https://purl.org/becyt/ford/3.3, https://purl.org/becyt/ford/3, GEN HFE, H63D

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average
Green