Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl

Autores
Eberle, Silvia Eandi; Noguera, Nelida Ines; Sciuccati, Gabriela; Bonduel, Mariana; Díaz, Lilian; Staciuk, Raquel; Targovnik, Hector Manuel; Feliu Torres, Aurora
Año de publicación
2007
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Hb Alesha is caused by a GTG>ATG mutation at codon 67 of the b-globin gene, resulting in abnormal beta-globin chains in which the normal beta67(E11) valine is changed to methionine. This hemoglobin (Hb) is also known as Hb Bristol, the first unstable Hb described, since in a fraction of the variant the methionine is modified into an aspartic acid by a posttranslational modification. This replacement disrupts the apolar bonds between the valine and the heme group, producing an unstable Hb and severe hemolysis. We have identified this rare hemoglobinopathy in an Argentinean girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell transfusions.
Fil: Eberle, Silvia Eandi. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Noguera, Nelida Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Sciuccati, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Bonduel, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Díaz, Lilian. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Staciuk, Raquel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Feliu Torres, Aurora. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Materia
UNSTABLE HEMOGLOBIN
ABNORMAL HB
HEMOLITIC 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:11336/117336
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/117336
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girlEberle, Silvia EandiNoguera, Nelida InesSciuccati, GabrielaBonduel, MarianaDíaz, LilianStaciuk, RaquelTargovnik, Hector ManuelFeliu Torres, AuroraUNSTABLE HEMOGLOBINABNORMAL HBHEMOLITIC ANEMIAhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Hb Alesha is caused by a GTG>ATG mutation at codon 67 of the b-globin gene, resulting in abnormal beta-globin chains in which the normal beta67(E11) valine is changed to methionine. This hemoglobin (Hb) is also known as Hb Bristol, the first unstable Hb described, since in a fraction of the variant the methionine is modified into an aspartic acid by a posttranslational modification. This replacement disrupts the apolar bonds between the valine and the heme group, producing an unstable Hb and severe hemolysis. We have identified this rare hemoglobinopathy in an Argentinean girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell transfusions.Fil: Eberle, Silvia Eandi. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Noguera, Nelida Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Sciuccati, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Bonduel, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Díaz, Lilian. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Staciuk, Raquel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; ArgentinaFil: Feliu Torres, Aurora. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaTaylor & Francis2007-12info: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/11336/117336Eberle, Silvia Eandi; Noguera, Nelida Ines; Sciuccati, Gabriela; Bonduel, Mariana; Díaz, Lilian; et al.; Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl; Taylor & Francis; Hemoglobin; 31; 3; 12-2007; 379-3820363-0269CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/abs/10.1080/03630260701459408info:eu-repo/semantics/altIdentifier/doi/10.1080/03630260701459408info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:42:04Zoai:ri.conicet.gov.ar:11336/117336instacron: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:34982025-09-29 09:42:04.421CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
title Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
spellingShingle Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
Eberle, Silvia Eandi
UNSTABLE HEMOGLOBIN
ABNORMAL HB
HEMOLITIC ANEMIA
title_short Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
title_full Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
title_fullStr Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
title_full_unstemmed Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
title_sort Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl
dc.creator.none.fl_str_mv Eberle, Silvia Eandi
Noguera, Nelida Ines
Sciuccati, Gabriela
Bonduel, Mariana
Díaz, Lilian
Staciuk, Raquel
Targovnik, Hector Manuel
Feliu Torres, Aurora
author Eberle, Silvia Eandi
author_facet Eberle, Silvia Eandi
Noguera, Nelida Ines
Sciuccati, Gabriela
Bonduel, Mariana
Díaz, Lilian
Staciuk, Raquel
Targovnik, Hector Manuel
Feliu Torres, Aurora
author_role author
author2 Noguera, Nelida Ines
Sciuccati, Gabriela
Bonduel, Mariana
Díaz, Lilian
Staciuk, Raquel
Targovnik, Hector Manuel
Feliu Torres, Aurora
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv UNSTABLE HEMOGLOBIN
ABNORMAL HB
HEMOLITIC ANEMIA
topic UNSTABLE HEMOGLOBIN
ABNORMAL HB
HEMOLITIC ANEMIA
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Hb Alesha is caused by a GTG>ATG mutation at codon 67 of the b-globin gene, resulting in abnormal beta-globin chains in which the normal beta67(E11) valine is changed to methionine. This hemoglobin (Hb) is also known as Hb Bristol, the first unstable Hb described, since in a fraction of the variant the methionine is modified into an aspartic acid by a posttranslational modification. This replacement disrupts the apolar bonds between the valine and the heme group, producing an unstable Hb and severe hemolysis. We have identified this rare hemoglobinopathy in an Argentinean girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell transfusions.
Fil: Eberle, Silvia Eandi. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Noguera, Nelida Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Sciuccati, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Bonduel, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Díaz, Lilian. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Staciuk, Raquel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas; Argentina
Fil: Feliu Torres, Aurora. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
description Hb Alesha is caused by a GTG>ATG mutation at codon 67 of the b-globin gene, resulting in abnormal beta-globin chains in which the normal beta67(E11) valine is changed to methionine. This hemoglobin (Hb) is also known as Hb Bristol, the first unstable Hb described, since in a fraction of the variant the methionine is modified into an aspartic acid by a posttranslational modification. This replacement disrupts the apolar bonds between the valine and the heme group, producing an unstable Hb and severe hemolysis. We have identified this rare hemoglobinopathy in an Argentinean girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell transfusions.
publishDate 2007
dc.date.none.fl_str_mv 2007-12
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/11336/117336
Eberle, Silvia Eandi; Noguera, Nelida Ines; Sciuccati, Gabriela; Bonduel, Mariana; Díaz, Lilian; et al.; Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl; Taylor & Francis; Hemoglobin; 31; 3; 12-2007; 379-382
0363-0269
CONICET Digital
CONICET
url http://hdl.handle.net/11336/117336
identifier_str_mv Eberle, Silvia Eandi; Noguera, Nelida Ines; Sciuccati, Gabriela; Bonduel, Mariana; Díaz, Lilian; et al.; Hb Alesha [β67(E11)Val→Met, GTG→ATG] in an Argentinean girl; Taylor & Francis; Hemoglobin; 31; 3; 12-2007; 379-382
0363-0269
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.tandfonline.com/doi/abs/10.1080/03630260701459408
info:eu-repo/semantics/altIdentifier/doi/10.1080/03630260701459408
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 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
_version_ 1844613325681328128
score 13.070432

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