Hemoglobin Agenogi in Argentina: Case Report

Autores
Martin, Ana Paula; Gargallo, Patricia Martha; Bragós, Irma Margarita; Abbate, Alejandro; Ojeda, Mara Jorgelina; Montero, Veronica Susana
Año de publicación
2012
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Hb Agenogi [b90(F6)Glu–>Lys], a beta chain variant was detected in a 44-years-old female patient of italian ancestry. She showed a hypochromic microcytic anemia and was treated as ferropenic anemia since she was 27 years old. The complete cell blood count revealed the following results: RBC: 4.01× 1012/L, PCV:30.9%, Hb:10.4 g/dl, MCV: 77fl, RDW 13.5%, MCH: 25.9 pg, MCHC:33.7%; reticulocytes: 0.6% and the peripheral blood smear showed no basophilic stippling. Serum vitamin B12, folate, iron, transferrin, transferrin saturation and ferritin were normal. The electrophoresis performed on agarose (alkaline pH) revealed a band of 44.5% with a mobility between Hb C and S. The unstable hemoglobin test was positive and the P50 was 31.3 mmHg (NR: 24 –28 mm Hg). This slow-moving hemoglobin, mild unstable and with decreased oxygen affinity was further characterized by sequencing of the amplified DNA, showing the substitution of glutamic acid (GAG) to lysine (AAG) at position 90 of the β globin chain This mutation has been described in only nine families, this is the second affected case in Argentina.
Fil: Martin, Ana Paula. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
Fil: Gargallo, Patricia Martha. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
Fil: Bragós, Irma Margarita. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas.; Argentina
Fil: Abbate, Alejandro. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
Fil: Ojeda, Mara Jorgelina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Fisiología Experimental. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Instituto de Fisiología Experimental; Argentina
Fil: Montero, Veronica Susana. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
Materia
HEMOGLOBIN
DNA
HB AGENOGI
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:11336/271651
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/271651
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Hemoglobin Agenogi in Argentina: Case ReportMartin, Ana PaulaGargallo, Patricia MarthaBragós, Irma MargaritaAbbate, AlejandroOjeda, Mara JorgelinaMontero, Veronica SusanaHEMOGLOBINDNAHB AGENOGIhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Hb Agenogi [b90(F6)Glu–>Lys], a beta chain variant was detected in a 44-years-old female patient of italian ancestry. She showed a hypochromic microcytic anemia and was treated as ferropenic anemia since she was 27 years old. The complete cell blood count revealed the following results: RBC: 4.01× 1012/L, PCV:30.9%, Hb:10.4 g/dl, MCV: 77fl, RDW 13.5%, MCH: 25.9 pg, MCHC:33.7%; reticulocytes: 0.6% and the peripheral blood smear showed no basophilic stippling. Serum vitamin B12, folate, iron, transferrin, transferrin saturation and ferritin were normal. The electrophoresis performed on agarose (alkaline pH) revealed a band of 44.5% with a mobility between Hb C and S. The unstable hemoglobin test was positive and the P50 was 31.3 mmHg (NR: 24 –28 mm Hg). This slow-moving hemoglobin, mild unstable and with decreased oxygen affinity was further characterized by sequencing of the amplified DNA, showing the substitution of glutamic acid (GAG) to lysine (AAG) at position 90 of the β globin chain This mutation has been described in only nine families, this is the second affected case in Argentina.Fil: Martin, Ana Paula. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; ArgentinaFil: Gargallo, Patricia Martha. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; ArgentinaFil: Bragós, Irma Margarita. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas.; ArgentinaFil: Abbate, Alejandro. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; ArgentinaFil: Ojeda, Mara Jorgelina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Fisiología Experimental. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Instituto de Fisiología Experimental; ArgentinaFil: Montero, Veronica Susana. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; ArgentinaAmerican Society of Hematology2012-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/271651Martin, Ana Paula; Gargallo, Patricia Martha; Bragós, Irma Margarita; Abbate, Alejandro; Ojeda, Mara Jorgelina; et al.; Hemoglobin Agenogi in Argentina: Case Report; American Society of Hematology; Blood; 120; 21; 11-2012; 4776-47760006-4971CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://ashpublications.org/blood/article/120/21/4776/85260/Hemoglobin-Agenogi-in-Argentina-Case-Reportinfo:eu-repo/semantics/altIdentifier/doi/10.1182/blood.V120.21.4776.4776info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:07:12Zoai:ri.conicet.gov.ar:11336/271651instacron: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:34982025-10-22 11:07:13.131CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Hemoglobin Agenogi in Argentina: Case Report
title Hemoglobin Agenogi in Argentina: Case Report
spellingShingle Hemoglobin Agenogi in Argentina: Case Report
Martin, Ana Paula
HEMOGLOBIN
DNA
HB AGENOGI
title_short Hemoglobin Agenogi in Argentina: Case Report
title_full Hemoglobin Agenogi in Argentina: Case Report
title_fullStr Hemoglobin Agenogi in Argentina: Case Report
title_full_unstemmed Hemoglobin Agenogi in Argentina: Case Report
title_sort Hemoglobin Agenogi in Argentina: Case Report
dc.creator.none.fl_str_mv Martin, Ana Paula
Gargallo, Patricia Martha
Bragós, Irma Margarita
Abbate, Alejandro
Ojeda, Mara Jorgelina
Montero, Veronica Susana
author Martin, Ana Paula
author_facet Martin, Ana Paula
Gargallo, Patricia Martha
Bragós, Irma Margarita
Abbate, Alejandro
Ojeda, Mara Jorgelina
Montero, Veronica Susana
author_role author
author2 Gargallo, Patricia Martha
Bragós, Irma Margarita
Abbate, Alejandro
Ojeda, Mara Jorgelina
Montero, Veronica Susana
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv HEMOGLOBIN
DNA
HB AGENOGI
topic HEMOGLOBIN
DNA
HB AGENOGI
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Hb Agenogi [b90(F6)Glu–>Lys], a beta chain variant was detected in a 44-years-old female patient of italian ancestry. She showed a hypochromic microcytic anemia and was treated as ferropenic anemia since she was 27 years old. The complete cell blood count revealed the following results: RBC: 4.01× 1012/L, PCV:30.9%, Hb:10.4 g/dl, MCV: 77fl, RDW 13.5%, MCH: 25.9 pg, MCHC:33.7%; reticulocytes: 0.6% and the peripheral blood smear showed no basophilic stippling. Serum vitamin B12, folate, iron, transferrin, transferrin saturation and ferritin were normal. The electrophoresis performed on agarose (alkaline pH) revealed a band of 44.5% with a mobility between Hb C and S. The unstable hemoglobin test was positive and the P50 was 31.3 mmHg (NR: 24 –28 mm Hg). This slow-moving hemoglobin, mild unstable and with decreased oxygen affinity was further characterized by sequencing of the amplified DNA, showing the substitution of glutamic acid (GAG) to lysine (AAG) at position 90 of the β globin chain This mutation has been described in only nine families, this is the second affected case in Argentina.
Fil: Martin, Ana Paula. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
Fil: Gargallo, Patricia Martha. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
Fil: Bragós, Irma Margarita. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas.; Argentina
Fil: Abbate, Alejandro. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
Fil: Ojeda, Mara Jorgelina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Fisiología Experimental. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Instituto de Fisiología Experimental; Argentina
Fil: Montero, Veronica Susana. Centro de Educaciones Médicas e Investigación Clínica "Norberto Quirno"; Argentina
description Hb Agenogi [b90(F6)Glu–>Lys], a beta chain variant was detected in a 44-years-old female patient of italian ancestry. She showed a hypochromic microcytic anemia and was treated as ferropenic anemia since she was 27 years old. The complete cell blood count revealed the following results: RBC: 4.01× 1012/L, PCV:30.9%, Hb:10.4 g/dl, MCV: 77fl, RDW 13.5%, MCH: 25.9 pg, MCHC:33.7%; reticulocytes: 0.6% and the peripheral blood smear showed no basophilic stippling. Serum vitamin B12, folate, iron, transferrin, transferrin saturation and ferritin were normal. The electrophoresis performed on agarose (alkaline pH) revealed a band of 44.5% with a mobility between Hb C and S. The unstable hemoglobin test was positive and the P50 was 31.3 mmHg (NR: 24 –28 mm Hg). This slow-moving hemoglobin, mild unstable and with decreased oxygen affinity was further characterized by sequencing of the amplified DNA, showing the substitution of glutamic acid (GAG) to lysine (AAG) at position 90 of the β globin chain This mutation has been described in only nine families, this is the second affected case in Argentina.
publishDate 2012
dc.date.none.fl_str_mv 2012-11
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/11336/271651
Martin, Ana Paula; Gargallo, Patricia Martha; Bragós, Irma Margarita; Abbate, Alejandro; Ojeda, Mara Jorgelina; et al.; Hemoglobin Agenogi in Argentina: Case Report; American Society of Hematology; Blood; 120; 21; 11-2012; 4776-4776
0006-4971
CONICET Digital
CONICET
url http://hdl.handle.net/11336/271651
identifier_str_mv Martin, Ana Paula; Gargallo, Patricia Martha; Bragós, Irma Margarita; Abbate, Alejandro; Ojeda, Mara Jorgelina; et al.; Hemoglobin Agenogi in Argentina: Case Report; American Society of Hematology; Blood; 120; 21; 11-2012; 4776-4776
0006-4971
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://ashpublications.org/blood/article/120/21/4776/85260/Hemoglobin-Agenogi-in-Argentina-Case-Report
info:eu-repo/semantics/altIdentifier/doi/10.1182/blood.V120.21.4776.4776
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
dc.publisher.none.fl_str_mv American Society of Hematology
publisher.none.fl_str_mv American Society of Hematology
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_ 1846781384157298688
score 12.982451

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