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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/271651
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T09:38:54Zoai: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:34982025-09-29 09:38:54.359CONICET 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 |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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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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1844613230021836800 |
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13.070432 |