Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman

Detalhes bibliográficos
Autor(a) principal: Pereira,Julio Abayuba da Luz
Data de Publicação: 2013
Outros Autores: López,Pablo, Costa,Fernando Ferreira, Sans,Mónica, Sonati,Maria de Fatima
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Revista brasileira de hematologia e hemoterapia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000200018
Resumo: Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population.
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spelling Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan womanHemoglobinsHemoglobinopathiesAnemia, hemolytic, congenitalHumansFemaleAdultCase reportsHemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population.Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular2013-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000200018Revista Brasileira de Hematologia e Hemoterapia v.35 n.2 2013reponame:Revista brasileira de hematologia e hemoterapia (Online)instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)instacron:ABHHTC10.5581/1516-8484.20130037info:eu-repo/semantics/openAccessPereira,Julio Abayuba da LuzLópez,PabloCosta,Fernando FerreiraSans,MónicaSonati,Maria de Fatimaeng2013-06-05T00:00:00Zoai:scielo:S1516-84842013000200018Revistahttp://www.rbhh.org/pt/archivo/https://old.scielo.br/oai/scielo-oai.phpsbhh@terra.com.br||secretaria@rbhh.org1806-08701516-8484opendoar:2013-06-05T00:00Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)false
dc.title.none.fl_str_mv Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
title Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
spellingShingle Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
Pereira,Julio Abayuba da Luz
Hemoglobins
Hemoglobinopathies
Anemia, hemolytic, congenital
Humans
Female
Adult
Case reports
title_short Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
title_full Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
title_fullStr Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
title_full_unstemmed Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
title_sort Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman
author Pereira,Julio Abayuba da Luz
author_facet Pereira,Julio Abayuba da Luz
López,Pablo
Costa,Fernando Ferreira
Sans,Mónica
Sonati,Maria de Fatima
author_role author
author2 López,Pablo
Costa,Fernando Ferreira
Sans,Mónica
Sonati,Maria de Fatima
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Pereira,Julio Abayuba da Luz
López,Pablo
Costa,Fernando Ferreira
Sans,Mónica
Sonati,Maria de Fatima
dc.subject.por.fl_str_mv Hemoglobins
Hemoglobinopathies
Anemia, hemolytic, congenital
Humans
Female
Adult
Case reports
topic Hemoglobins
Hemoglobinopathies
Anemia, hemolytic, congenital
Humans
Female
Adult
Case reports
description Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population.
publishDate 2013
dc.date.none.fl_str_mv 2013-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000200018
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842013000200018
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5581/1516-8484.20130037
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
publisher.none.fl_str_mv Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
dc.source.none.fl_str_mv Revista Brasileira de Hematologia e Hemoterapia v.35 n.2 2013
reponame:Revista brasileira de hematologia e hemoterapia (Online)
instname:Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron:ABHHTC
instname_str Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
instacron_str ABHHTC
institution ABHHTC
reponame_str Revista brasileira de hematologia e hemoterapia (Online)
collection Revista brasileira de hematologia e hemoterapia (Online)
repository.name.fl_str_mv Revista brasileira de hematologia e hemoterapia (Online) - Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (ABHHTC)
repository.mail.fl_str_mv sbhh@terra.com.br||secretaria@rbhh.org
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