Alpha hemoglobinophaties in Rosario, Argentina

Autores
Ojeda, Mara Jorgelina; Perez, Susana Mabel; Pratti, Arianna Flavia; Calvo, Karina Lucrecia; Raviola, Mariana Paula; Voss, María Eda; Williams, Gladis Marcela; Noguera, Nelida Ines; Carbonell, María Magdalena; Aixalá, Mónica Teresita; Bragós, Irma Margarita
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.
Fil: Ojeda, Mara Jorgelina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Perez, Susana Mabel. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Pratti, Arianna Flavia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Calvo, Karina Lucrecia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Raviola, Mariana Paula. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Voss, María Eda. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Williams, Gladis Marcela. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Noguera, Nelida Ines. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Carbonell, María Magdalena. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Aixalá, Mónica Teresita. Laboratorio Aixalá-Blanco; Argentina
Fil: Bragós, Irma Margarita. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Materia
HEMOGLOBINOPATHIES
ALPHA THALASSEMIA
MICROCYTIC HYPOCROMIC ANEMIA
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:11336/61906
Acceder
id CONICETDig_2de9bb60e88e4020ea6c767e68688d4b
oai_identifier_str oai:ri.conicet.gov.ar:11336/61906
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Alpha hemoglobinophaties in Rosario, ArgentinaOjeda, Mara JorgelinaPerez, Susana MabelPratti, Arianna FlaviaCalvo, Karina LucreciaRaviola, Mariana PaulaVoss, María EdaWilliams, Gladis MarcelaNoguera, Nelida InesCarbonell, María MagdalenaAixalá, Mónica TeresitaBragós, Irma MargaritaHEMOGLOBINOPATHIESALPHA THALASSEMIAMICROCYTIC HYPOCROMIC ANEMIAhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.Fil: Ojeda, Mara Jorgelina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Perez, Susana Mabel. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Pratti, Arianna Flavia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Calvo, Karina Lucrecia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Raviola, Mariana Paula. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Voss, María Eda. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Williams, Gladis Marcela. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Noguera, Nelida Ines. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Carbonell, María Magdalena. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Aixalá, Mónica Teresita. Laboratorio Aixalá-Blanco; ArgentinaFil: Bragós, Irma Margarita. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaPAGEPress2016-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/61906Ojeda, Mara Jorgelina; Perez, Susana Mabel; Pratti, Arianna Flavia; Calvo, Karina Lucrecia; Raviola, Mariana Paula; et al.; Alpha hemoglobinophaties in Rosario, Argentina; PAGEPress; Thalassemia Reports; 7; 1; 12-2016; 3-52039-43572039-4365CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.4081/thal.2017.5655info:eu-repo/semantics/altIdentifier/url/https://www.pagepressjournals.org/index.php/thal/article/view/5655info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:04:36Zoai:ri.conicet.gov.ar:11336/61906instacron: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 10:04:37.037CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Alpha hemoglobinophaties in Rosario, Argentina
title Alpha hemoglobinophaties in Rosario, Argentina
spellingShingle Alpha hemoglobinophaties in Rosario, Argentina
Ojeda, Mara Jorgelina
HEMOGLOBINOPATHIES
ALPHA THALASSEMIA
MICROCYTIC HYPOCROMIC ANEMIA
title_short Alpha hemoglobinophaties in Rosario, Argentina
title_full Alpha hemoglobinophaties in Rosario, Argentina
title_fullStr Alpha hemoglobinophaties in Rosario, Argentina
title_full_unstemmed Alpha hemoglobinophaties in Rosario, Argentina
title_sort Alpha hemoglobinophaties in Rosario, Argentina
dc.creator.none.fl_str_mv Ojeda, Mara Jorgelina
Perez, Susana Mabel
Pratti, Arianna Flavia
Calvo, Karina Lucrecia
Raviola, Mariana Paula
Voss, María Eda
Williams, Gladis Marcela
Noguera, Nelida Ines
Carbonell, María Magdalena
Aixalá, Mónica Teresita
Bragós, Irma Margarita
author Ojeda, Mara Jorgelina
author_facet Ojeda, Mara Jorgelina
Perez, Susana Mabel
Pratti, Arianna Flavia
Calvo, Karina Lucrecia
Raviola, Mariana Paula
Voss, María Eda
Williams, Gladis Marcela
Noguera, Nelida Ines
Carbonell, María Magdalena
Aixalá, Mónica Teresita
Bragós, Irma Margarita
author_role author
author2 Perez, Susana Mabel
Pratti, Arianna Flavia
Calvo, Karina Lucrecia
Raviola, Mariana Paula
Voss, María Eda
Williams, Gladis Marcela
Noguera, Nelida Ines
Carbonell, María Magdalena
Aixalá, Mónica Teresita
Bragós, Irma Margarita
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv HEMOGLOBINOPATHIES
ALPHA THALASSEMIA
MICROCYTIC HYPOCROMIC ANEMIA
topic HEMOGLOBINOPATHIES
ALPHA THALASSEMIA
MICROCYTIC HYPOCROMIC ANEMIA
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.
Fil: Ojeda, Mara Jorgelina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Perez, Susana Mabel. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Pratti, Arianna Flavia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Calvo, Karina Lucrecia. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Raviola, Mariana Paula. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Voss, María Eda. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Williams, Gladis Marcela. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Noguera, Nelida Ines. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Carbonell, María Magdalena. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Aixalá, Mónica Teresita. Laboratorio Aixalá-Blanco; Argentina
Fil: Bragós, Irma Margarita. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
description Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of β-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.
publishDate 2016
dc.date.none.fl_str_mv 2016-12
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/11336/61906
Ojeda, Mara Jorgelina; Perez, Susana Mabel; Pratti, Arianna Flavia; Calvo, Karina Lucrecia; Raviola, Mariana Paula; et al.; Alpha hemoglobinophaties in Rosario, Argentina; PAGEPress; Thalassemia Reports; 7; 1; 12-2016; 3-5
2039-4357
2039-4365
CONICET Digital
CONICET
url http://hdl.handle.net/11336/61906
identifier_str_mv Ojeda, Mara Jorgelina; Perez, Susana Mabel; Pratti, Arianna Flavia; Calvo, Karina Lucrecia; Raviola, Mariana Paula; et al.; Alpha hemoglobinophaties in Rosario, Argentina; PAGEPress; Thalassemia Reports; 7; 1; 12-2016; 3-5
2039-4357
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/doi/10.4081/thal.2017.5655
info:eu-repo/semantics/altIdentifier/url/https://www.pagepressjournals.org/index.php/thal/article/view/5655
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
dc.publisher.none.fl_str_mv PAGEPress
publisher.none.fl_str_mv PAGEPress
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
_version_ 1842269865957654528
score 13.13397

Publicaciones similares