Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina

Autores
Lazarte, Sandra Stella; Mónaco, María Elvira; Haro, Ana Cecilia; Jimenez, Cecilia Lorena; Ledesma, Miryam Emilse; Isse, Blanca Alicia de Los Angeles G.
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
The main hereditary hemoglobin (Hb) disorder in Argentina is b-thalassemia (b-thal). Molecular studies performed in the center of the country exhibited a marked prevalence of the codon 39 (C4T) and IVS-I-110 (G4A) mutations. The northwest region of Argentina has a different demographic history characterized by an important Spanish influx. Seventy-one b-thal carriers attending the Instituto de Bioquı´mica Aplicada, Tucuma´n, Argentina, were investigated for b-globin gene mutations by real-time polymerase chain reaction (RT-PCR). To examine the genotype-phenotype relationship, mean corpuscular volume (MCV), mean corpuscular Hb (MCH) and Hb A2 were measured. In order to recognize b-thal, Mentzer Index, Shine & Lal and Red Cell Distribution Width Index (RDWI), were calculated. The ethnic background of subjects revealed that 82.0% of the population was of Italian, Spanish and Arab origin. Seven mutations were detected: codon 39 (45.0%), IVS-I-1 (G4A) (22.5%), IVS-I-110 (16.3%), IVS-II-1 (G4A) (4.1%), IVS-I-1 (G4T) (2.0%), IVS-I-6 (T4C) (2.0%) and IVS-II-745 (G4C) (2.0%). In three families (6.1%), b-thal mutations were not determined. These results differed from other Argentinian studies because at present codon 39 and IVS-I-1 are the most prevalent; MCV, MCH and Hb A2 did not correlate with the type of mutation (b0/b+). Values of MCV (67.0 fL) and Hb A2 (4.85%) were unable to discriminate between them. Significant differences (p50.05) in MCV, MCH and Shine & Lal were observed between the undetermined group and the three most common mutations. These data show different patterns of b-thal mutations in the center and northwest regions of Argentina. Differences might represent the influence of Spanish immigration.
Fil: Lazarte, Sandra Stella. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
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: 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: Jimenez, Cecilia Lorena. 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: Isse, Blanca Alicia de Los Angeles G.. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
Materia
betha thalassemia
Mutations
genotype-phenotype correlation
Argentina
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/101983
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/101983
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, ArgentinaLazarte, Sandra StellaMónaco, María ElviraHaro, Ana CeciliaJimenez, Cecilia LorenaLedesma, Miryam EmilseIsse, Blanca Alicia de Los Angeles G.betha thalassemiaMutationsgenotype-phenotype correlationArgentinahttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3The main hereditary hemoglobin (Hb) disorder in Argentina is b-thalassemia (b-thal). Molecular studies performed in the center of the country exhibited a marked prevalence of the codon 39 (C4T) and IVS-I-110 (G4A) mutations. The northwest region of Argentina has a different demographic history characterized by an important Spanish influx. Seventy-one b-thal carriers attending the Instituto de Bioquı´mica Aplicada, Tucuma´n, Argentina, were investigated for b-globin gene mutations by real-time polymerase chain reaction (RT-PCR). To examine the genotype-phenotype relationship, mean corpuscular volume (MCV), mean corpuscular Hb (MCH) and Hb A2 were measured. In order to recognize b-thal, Mentzer Index, Shine & Lal and Red Cell Distribution Width Index (RDWI), were calculated. The ethnic background of subjects revealed that 82.0% of the population was of Italian, Spanish and Arab origin. Seven mutations were detected: codon 39 (45.0%), IVS-I-1 (G4A) (22.5%), IVS-I-110 (16.3%), IVS-II-1 (G4A) (4.1%), IVS-I-1 (G4T) (2.0%), IVS-I-6 (T4C) (2.0%) and IVS-II-745 (G4C) (2.0%). In three families (6.1%), b-thal mutations were not determined. These results differed from other Argentinian studies because at present codon 39 and IVS-I-1 are the most prevalent; MCV, MCH and Hb A2 did not correlate with the type of mutation (b0/b+). Values of MCV (67.0 fL) and Hb A2 (4.85%) were unable to discriminate between them. Significant differences (p50.05) in MCV, MCH and Shine & Lal were observed between the undetermined group and the three most common mutations. These data show different patterns of b-thal mutations in the center and northwest regions of Argentina. Differences might represent the influence of Spanish immigration.Fil: Lazarte, Sandra Stella. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; ArgentinaFil: 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: 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: Jimenez, Cecilia Lorena. 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: Isse, Blanca Alicia de Los Angeles G.. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; ArgentinaTaylor & Francis2014-10info: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/11336/101983Lazarte, Sandra Stella; Mónaco, María Elvira; Haro, Ana Cecilia; Jimenez, Cecilia Lorena; Ledesma, Miryam Emilse; et al.; Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina; Taylor & Francis; Hemoglobin; 38; 6; 10-2014; 394-4010363-02691532-432XCONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.ncbi.nlm.nih.gov/pubmed/25347257info:eu-repo/semantics/altIdentifier/doi/10.3109/03630269.2014.968784info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-11-12T09:37:45Zoai:ri.conicet.gov.ar:11336/101983instacron: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:34982025-11-12 09:37:46.215CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
title Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
spellingShingle Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
Lazarte, Sandra Stella
betha thalassemia
Mutations
genotype-phenotype correlation
Argentina
title_short Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
title_full Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
title_fullStr Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
title_full_unstemmed Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
title_sort Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina
dc.creator.none.fl_str_mv Lazarte, Sandra Stella
Mónaco, María Elvira
Haro, Ana Cecilia
Jimenez, Cecilia Lorena
Ledesma, Miryam Emilse
Isse, Blanca Alicia de Los Angeles G.
author Lazarte, Sandra Stella
author_facet Lazarte, Sandra Stella
Mónaco, María Elvira
Haro, Ana Cecilia
Jimenez, Cecilia Lorena
Ledesma, Miryam Emilse
Isse, Blanca Alicia de Los Angeles G.
author_role author
author2 Mónaco, María Elvira
Haro, Ana Cecilia
Jimenez, Cecilia Lorena
Ledesma, Miryam Emilse
Isse, Blanca Alicia de Los Angeles G.
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv betha thalassemia
Mutations
genotype-phenotype correlation
Argentina
topic betha thalassemia
Mutations
genotype-phenotype correlation
Argentina
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 main hereditary hemoglobin (Hb) disorder in Argentina is b-thalassemia (b-thal). Molecular studies performed in the center of the country exhibited a marked prevalence of the codon 39 (C4T) and IVS-I-110 (G4A) mutations. The northwest region of Argentina has a different demographic history characterized by an important Spanish influx. Seventy-one b-thal carriers attending the Instituto de Bioquı´mica Aplicada, Tucuma´n, Argentina, were investigated for b-globin gene mutations by real-time polymerase chain reaction (RT-PCR). To examine the genotype-phenotype relationship, mean corpuscular volume (MCV), mean corpuscular Hb (MCH) and Hb A2 were measured. In order to recognize b-thal, Mentzer Index, Shine & Lal and Red Cell Distribution Width Index (RDWI), were calculated. The ethnic background of subjects revealed that 82.0% of the population was of Italian, Spanish and Arab origin. Seven mutations were detected: codon 39 (45.0%), IVS-I-1 (G4A) (22.5%), IVS-I-110 (16.3%), IVS-II-1 (G4A) (4.1%), IVS-I-1 (G4T) (2.0%), IVS-I-6 (T4C) (2.0%) and IVS-II-745 (G4C) (2.0%). In three families (6.1%), b-thal mutations were not determined. These results differed from other Argentinian studies because at present codon 39 and IVS-I-1 are the most prevalent; MCV, MCH and Hb A2 did not correlate with the type of mutation (b0/b+). Values of MCV (67.0 fL) and Hb A2 (4.85%) were unable to discriminate between them. Significant differences (p50.05) in MCV, MCH and Shine & Lal were observed between the undetermined group and the three most common mutations. These data show different patterns of b-thal mutations in the center and northwest regions of Argentina. Differences might represent the influence of Spanish immigration.
Fil: Lazarte, Sandra Stella. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
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: 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: Jimenez, Cecilia Lorena. 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: Isse, Blanca Alicia de Los Angeles G.. Universidad Nacional de Tucumán. Facultad de Bioquímica, Química y Farmacia. Instituto de Bioquímica Aplicada; Argentina
description The main hereditary hemoglobin (Hb) disorder in Argentina is b-thalassemia (b-thal). Molecular studies performed in the center of the country exhibited a marked prevalence of the codon 39 (C4T) and IVS-I-110 (G4A) mutations. The northwest region of Argentina has a different demographic history characterized by an important Spanish influx. Seventy-one b-thal carriers attending the Instituto de Bioquı´mica Aplicada, Tucuma´n, Argentina, were investigated for b-globin gene mutations by real-time polymerase chain reaction (RT-PCR). To examine the genotype-phenotype relationship, mean corpuscular volume (MCV), mean corpuscular Hb (MCH) and Hb A2 were measured. In order to recognize b-thal, Mentzer Index, Shine & Lal and Red Cell Distribution Width Index (RDWI), were calculated. The ethnic background of subjects revealed that 82.0% of the population was of Italian, Spanish and Arab origin. Seven mutations were detected: codon 39 (45.0%), IVS-I-1 (G4A) (22.5%), IVS-I-110 (16.3%), IVS-II-1 (G4A) (4.1%), IVS-I-1 (G4T) (2.0%), IVS-I-6 (T4C) (2.0%) and IVS-II-745 (G4C) (2.0%). In three families (6.1%), b-thal mutations were not determined. These results differed from other Argentinian studies because at present codon 39 and IVS-I-1 are the most prevalent; MCV, MCH and Hb A2 did not correlate with the type of mutation (b0/b+). Values of MCV (67.0 fL) and Hb A2 (4.85%) were unable to discriminate between them. Significant differences (p50.05) in MCV, MCH and Shine & Lal were observed between the undetermined group and the three most common mutations. These data show different patterns of b-thal mutations in the center and northwest regions of Argentina. Differences might represent the influence of Spanish immigration.
publishDate 2014
dc.date.none.fl_str_mv 2014-10
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/11336/101983
Lazarte, Sandra Stella; Mónaco, María Elvira; Haro, Ana Cecilia; Jimenez, Cecilia Lorena; Ledesma, Miryam Emilse; et al.; Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina; Taylor & Francis; Hemoglobin; 38; 6; 10-2014; 394-401
0363-0269
1532-432X
CONICET Digital
CONICET
url http://hdl.handle.net/11336/101983
identifier_str_mv Lazarte, Sandra Stella; Mónaco, María Elvira; Haro, Ana Cecilia; Jimenez, Cecilia Lorena; Ledesma, Miryam Emilse; et al.; Molecular Characterization and Phenotypical Study of b-Thalassemia in Tucuman, Argentina; Taylor & Francis; Hemoglobin; 38; 6; 10-2014; 394-401
0363-0269
1532-432X
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.ncbi.nlm.nih.gov/pubmed/25347257
info:eu-repo/semantics/altIdentifier/doi/10.3109/03630269.2014.968784
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Taylor & Francis
publisher.none.fl_str_mv Taylor & Francis
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 13.24909

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