Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil

Detalhes bibliográficos
Autor(a) principal: Torres, F. R. [UNESP]
Data de Publicação: 2006
Outros Autores: Ondei, L. S. [UNESP], Zamaro, P. J. A. [UNESP], Silva, R. U., Cavasini, C. E., Rossit, A. R. B., Machado, R. L. D., Bonini-Domingos, C. R. [UNESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://www.geneticsmr.com/articles/307
http://hdl.handle.net/11449/38238
Resumo: We describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS-->GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of this alpha globin mutant in a Brazilian Caucasian group. We also emphasize the importance of the hemoglobin study in blood donors for the purpose of the genetic counseling and quality assurance of the blood to be transfused. Screening tests for hemoglobin mutants are also important for gathering anthropological information about the Brazilian population.
id UNSP_58d12a40fdb0c71faf9349d3c93fdd32
oai_identifier_str oai:repositorio.unesp.br:11449/127531
network_acronym_str UNSP
network_name_str Repositório Institucional da UNESP
repository_id_str 2946
spelling Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from BrazilHb I-Philadelphiarare hemoglobinHPLCblood donorsWe describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS-->GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of this alpha globin mutant in a Brazilian Caucasian group. We also emphasize the importance of the hemoglobin study in blood donors for the purpose of the genetic counseling and quality assurance of the blood to be transfused. Screening tests for hemoglobin mutants are also important for gathering anthropological information about the Brazilian population.Departamento de Biologia Laboratório de Hemoglobinas e Genética Das Doenças Hematológicas UNESP, S. José do Rio Preto, SPBanco de Sangue do Estado do Acre, Rio Branco, ACDepartamento de Doenças Infecciosas, Dermatológicas e Parasitárias Centro de Investigação de Microrganismos Faculdade de Medicina, S. José do Rio Preto, SPDepartamento de Biologia Laboratório de Hemoglobinas e Genética Das Doenças Hematológicas UNESP, S. José do Rio Preto, SPFunpec-editoraUniversidade Estadual Paulista (Unesp)Banco de Sangue do Estado do AcreFaculdade de MedicinaTorres, F. R. [UNESP]Ondei, L. S. [UNESP]Zamaro, P. J. A. [UNESP]Silva, R. U.Cavasini, C. E.Rossit, A. R. B.Machado, R. L. D.Bonini-Domingos, C. R. [UNESP]2015-09-10T12:33:20Z2015-09-10T12:33:20Z2006-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article713-716application/pdfhttp://www.geneticsmr.com/articles/307Genetics and Molecular Research, v. 5, n. 4, p. 713-716, 2006.1676-5680http://hdl.handle.net/11449/38238WOS:0002030120000132-s2.0-33845424973WOS000203012000013.pdf942417568820654532794280661767190000-0002-4603-9467Web of ScienceScopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Research0,439info:eu-repo/semantics/openAccess2023-10-01T06:08:44Zoai:repositorio.unesp.br:11449/127531Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T13:41:36.378919Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
title Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
spellingShingle Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
Torres, F. R. [UNESP]
Hb I-Philadelphia
rare hemoglobin
HPLC
blood donors
title_short Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
title_full Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
title_fullStr Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
title_full_unstemmed Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
title_sort Hemoglobin I-Philadelphia [alpha 16 (A14) LYS→GLU] heterozygote among blood donors from Brazil
author Torres, F. R. [UNESP]
author_facet Torres, F. R. [UNESP]
Ondei, L. S. [UNESP]
Zamaro, P. J. A. [UNESP]
Silva, R. U.
Cavasini, C. E.
Rossit, A. R. B.
Machado, R. L. D.
Bonini-Domingos, C. R. [UNESP]
author_role author
author2 Ondei, L. S. [UNESP]
Zamaro, P. J. A. [UNESP]
Silva, R. U.
Cavasini, C. E.
Rossit, A. R. B.
Machado, R. L. D.
Bonini-Domingos, C. R. [UNESP]
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
Banco de Sangue do Estado do Acre
Faculdade de Medicina
dc.contributor.author.fl_str_mv Torres, F. R. [UNESP]
Ondei, L. S. [UNESP]
Zamaro, P. J. A. [UNESP]
Silva, R. U.
Cavasini, C. E.
Rossit, A. R. B.
Machado, R. L. D.
Bonini-Domingos, C. R. [UNESP]
dc.subject.por.fl_str_mv Hb I-Philadelphia
rare hemoglobin
HPLC
blood donors
topic Hb I-Philadelphia
rare hemoglobin
HPLC
blood donors
description We describe a heterozygous case of Hb I-Philadelphia [alpha 16 (A14) LYS-->GLU] in a blood donor from the Acre State Blood Bank, in the Brazilian Amazon region. We confirmed the mutation by electrophoretic and chromatographic methods and by DNA sequencing. A literature search showed that this is the first description of this alpha globin mutant in a Brazilian Caucasian group. We also emphasize the importance of the hemoglobin study in blood donors for the purpose of the genetic counseling and quality assurance of the blood to be transfused. Screening tests for hemoglobin mutants are also important for gathering anthropological information about the Brazilian population.
publishDate 2006
dc.date.none.fl_str_mv 2006-01-01
2015-09-10T12:33:20Z
2015-09-10T12:33:20Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://www.geneticsmr.com/articles/307
Genetics and Molecular Research, v. 5, n. 4, p. 713-716, 2006.
1676-5680
http://hdl.handle.net/11449/38238
WOS:000203012000013
2-s2.0-33845424973
WOS000203012000013.pdf
9424175688206545
3279428066176719
0000-0002-4603-9467
url http://www.geneticsmr.com/articles/307
http://hdl.handle.net/11449/38238
identifier_str_mv Genetics and Molecular Research, v. 5, n. 4, p. 713-716, 2006.
1676-5680
WOS:000203012000013
2-s2.0-33845424973
WOS000203012000013.pdf
9424175688206545
3279428066176719
0000-0002-4603-9467
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genetics and Molecular Research
0,439
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 713-716
application/pdf
dc.publisher.none.fl_str_mv Funpec-editora
publisher.none.fl_str_mv Funpec-editora
dc.source.none.fl_str_mv Web of Science
Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1808128266842669056

Registros relacionados