Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers

Autores
Mónaco, María Elvira; Alvarez Asensio, Natalia Sofía; Haro, Ana Cecilia; Teran, Magdalena María; Ledesma, Miryam Emilse; Issé, Blanca A.; Lazarte, Sandra Stella
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The human hemochromatosis protein HFE is encoded by the HFE gene and participatesin iron regulation. The aim of this study was to detect the most frequent HFE gene mutations in acontrol population and in β-thalassemia trait (BTT) carriers, and to study their relationship with ironmetabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, iron(Fe), total Fe binding capacity and ferritin were assayed. HFE gene mutations were analyzed by realtime PCR. A total of 119 individuals (69 normal and 50 BTT) were examined. In the control group, 9% (6/69) presented a codon 282 heterozygous mutation (C282Y), and 19% a codon 63 mutation (H63D) (13/69, 11 heterozygotes and 2 homozygotes). In the BTT group, 3 carriers (6%) were heterozygous for C282Y, 14 (28%) for H63D, 1 (2%) for a codon 65 mutation and 1 (2%) was H63D and C282Y d oubleheterozygous. Control group Fe metabolism did not show significant differences (p > 0.05) according to whether or not they carried an HFE gene mutation; while the BTT group with and without HFE mutation showed higher Fe and ferritin than the control group (p < 0.05). However, no increases in iron parameters were detected in BTT carriers that simultaneously exhibited an H63D mutation compared to BTT subjects without a mutation. Therefore, the iron metabolism alterations observed in BTT carriers could not be attributed to the presence of HFE gene mutations. It is likely that BTT individuals have other genetic modifiers that affect their iron balance.
Fil: Mónaco, María Elvira. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Biología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina
Fil: Alvarez Asensio, Natalia Sofía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Fil: Haro, Ana Cecilia. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina
Fil: Teran, Magdalena María. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina
Fil: Ledesma, Miryam Emilse. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Fil: Issé, Blanca A.. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Fil: Lazarte, Sandra Stella. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Materia
HFE
BETA-THALASSEMIA
HEREDITARY HEMOCHROMATOSIS
IRON METABOLISM
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/215229
Acceder
id CONICETDig_97d1105d6a05028a93044d1feda24217
oai_identifier_str oai:ri.conicet.gov.ar:11336/215229
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia CarriersMónaco, María ElviraAlvarez Asensio, Natalia SofíaHaro, Ana CeciliaTeran, Magdalena MaríaLedesma, Miryam EmilseIssé, Blanca A.Lazarte, Sandra StellaHFEBETA-THALASSEMIAHEREDITARY HEMOCHROMATOSISIRON METABOLISMhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3The human hemochromatosis protein HFE is encoded by the HFE gene and participatesin iron regulation. The aim of this study was to detect the most frequent HFE gene mutations in acontrol population and in β-thalassemia trait (BTT) carriers, and to study their relationship with ironmetabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, iron(Fe), total Fe binding capacity and ferritin were assayed. HFE gene mutations were analyzed by realtime PCR. A total of 119 individuals (69 normal and 50 BTT) were examined. In the control group, 9% (6/69) presented a codon 282 heterozygous mutation (C282Y), and 19% a codon 63 mutation (H63D) (13/69, 11 heterozygotes and 2 homozygotes). In the BTT group, 3 carriers (6%) were heterozygous for C282Y, 14 (28%) for H63D, 1 (2%) for a codon 65 mutation and 1 (2%) was H63D and C282Y d oubleheterozygous. Control group Fe metabolism did not show significant differences (p > 0.05) according to whether or not they carried an HFE gene mutation; while the BTT group with and without HFE mutation showed higher Fe and ferritin than the control group (p < 0.05). However, no increases in iron parameters were detected in BTT carriers that simultaneously exhibited an H63D mutation compared to BTT subjects without a mutation. Therefore, the iron metabolism alterations observed in BTT carriers could not be attributed to the presence of HFE gene mutations. It is likely that BTT individuals have other genetic modifiers that affect their iron balance.Fil: Mónaco, María Elvira. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Biología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; ArgentinaFil: Alvarez Asensio, Natalia Sofía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; ArgentinaFil: Haro, Ana Cecilia. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; ArgentinaFil: Teran, Magdalena María. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; ArgentinaFil: Ledesma, Miryam Emilse. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; ArgentinaFil: Issé, Blanca A.. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; ArgentinaFil: Lazarte, Sandra Stella. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; ArgentinaMDPI2023-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/215229Mónaco, María Elvira; Alvarez Asensio, Natalia Sofía; Haro, Ana Cecilia; Teran, Magdalena María; Ledesma, Miryam Emilse; et al.; Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers; MDPI; Thalassemia Reports; 13; 1; 3-2023; 113-1212039-4365CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2039-4365/13/1/10info:eu-repo/semantics/altIdentifier/doi/10.3390/thalassrep13010010info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:11:58Zoai:ri.conicet.gov.ar:11336/215229instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:11:58.4CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
title Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
spellingShingle Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
Mónaco, María Elvira
HFE
BETA-THALASSEMIA
HEREDITARY HEMOCHROMATOSIS
IRON METABOLISM
title_short Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
title_full Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
title_fullStr Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
title_full_unstemmed Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
title_sort Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers
dc.creator.none.fl_str_mv Mónaco, María Elvira
Alvarez Asensio, Natalia Sofía
Haro, Ana Cecilia
Teran, Magdalena María
Ledesma, Miryam Emilse
Issé, Blanca A.
Lazarte, Sandra Stella
author Mónaco, María Elvira
author_facet Mónaco, María Elvira
Alvarez Asensio, Natalia Sofía
Haro, Ana Cecilia
Teran, Magdalena María
Ledesma, Miryam Emilse
Issé, Blanca A.
Lazarte, Sandra Stella
author_role author
author2 Alvarez Asensio, Natalia Sofía
Haro, Ana Cecilia
Teran, Magdalena María
Ledesma, Miryam Emilse
Issé, Blanca A.
Lazarte, Sandra Stella
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv HFE
BETA-THALASSEMIA
HEREDITARY HEMOCHROMATOSIS
IRON METABOLISM
topic HFE
BETA-THALASSEMIA
HEREDITARY HEMOCHROMATOSIS
IRON METABOLISM
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv The human hemochromatosis protein HFE is encoded by the HFE gene and participatesin iron regulation. The aim of this study was to detect the most frequent HFE gene mutations in acontrol population and in β-thalassemia trait (BTT) carriers, and to study their relationship with ironmetabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, iron(Fe), total Fe binding capacity and ferritin were assayed. HFE gene mutations were analyzed by realtime PCR. A total of 119 individuals (69 normal and 50 BTT) were examined. In the control group, 9% (6/69) presented a codon 282 heterozygous mutation (C282Y), and 19% a codon 63 mutation (H63D) (13/69, 11 heterozygotes and 2 homozygotes). In the BTT group, 3 carriers (6%) were heterozygous for C282Y, 14 (28%) for H63D, 1 (2%) for a codon 65 mutation and 1 (2%) was H63D and C282Y d oubleheterozygous. Control group Fe metabolism did not show significant differences (p > 0.05) according to whether or not they carried an HFE gene mutation; while the BTT group with and without HFE mutation showed higher Fe and ferritin than the control group (p < 0.05). However, no increases in iron parameters were detected in BTT carriers that simultaneously exhibited an H63D mutation compared to BTT subjects without a mutation. Therefore, the iron metabolism alterations observed in BTT carriers could not be attributed to the presence of HFE gene mutations. It is likely that BTT individuals have other genetic modifiers that affect their iron balance.
Fil: Mónaco, María Elvira. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Biología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina
Fil: Alvarez Asensio, Natalia Sofía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Fil: Haro, Ana Cecilia. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina
Fil: Teran, Magdalena María. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán; Argentina
Fil: Ledesma, Miryam Emilse. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Fil: Issé, Blanca A.. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Fil: Lazarte, Sandra Stella. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
description The human hemochromatosis protein HFE is encoded by the HFE gene and participatesin iron regulation. The aim of this study was to detect the most frequent HFE gene mutations in acontrol population and in β-thalassemia trait (BTT) carriers, and to study their relationship with ironmetabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, iron(Fe), total Fe binding capacity and ferritin were assayed. HFE gene mutations were analyzed by realtime PCR. A total of 119 individuals (69 normal and 50 BTT) were examined. In the control group, 9% (6/69) presented a codon 282 heterozygous mutation (C282Y), and 19% a codon 63 mutation (H63D) (13/69, 11 heterozygotes and 2 homozygotes). In the BTT group, 3 carriers (6%) were heterozygous for C282Y, 14 (28%) for H63D, 1 (2%) for a codon 65 mutation and 1 (2%) was H63D and C282Y d oubleheterozygous. Control group Fe metabolism did not show significant differences (p > 0.05) according to whether or not they carried an HFE gene mutation; while the BTT group with and without HFE mutation showed higher Fe and ferritin than the control group (p < 0.05). However, no increases in iron parameters were detected in BTT carriers that simultaneously exhibited an H63D mutation compared to BTT subjects without a mutation. Therefore, the iron metabolism alterations observed in BTT carriers could not be attributed to the presence of HFE gene mutations. It is likely that BTT individuals have other genetic modifiers that affect their iron balance.
publishDate 2023
dc.date.none.fl_str_mv 2023-03
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/215229
Mónaco, María Elvira; Alvarez Asensio, Natalia Sofía; Haro, Ana Cecilia; Teran, Magdalena María; Ledesma, Miryam Emilse; et al.; Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers; MDPI; Thalassemia Reports; 13; 1; 3-2023; 113-121
2039-4365
CONICET Digital
CONICET
url http://hdl.handle.net/11336/215229
identifier_str_mv Mónaco, María Elvira; Alvarez Asensio, Natalia Sofía; Haro, Ana Cecilia; Teran, Magdalena María; Ledesma, Miryam Emilse; et al.; Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers; MDPI; Thalassemia Reports; 13; 1; 3-2023; 113-121
2039-4365
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2039-4365/13/1/10
info:eu-repo/semantics/altIdentifier/doi/10.3390/thalassrep13010010
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.13397

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