What influences Hb fetal production in adulthood?
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.5581/1516-8484.20110059 http://hdl.handle.net/11449/21423 |
Resumo: | Human hemoglobin genes are located in α and β globin gene clusters in chromosomes 16 and 11, respectively. Different types of hemoglobin are synthesized according to the stage of development with fetal hemoglobin (α2γ2) (Hb F) being the main hemoglobin in the fetal period. After birth, there is a reduction (to about 1%) in Hb F levels and adult hemoglobin, Hb A (2α2β2), increases to more than 96% of total hemoglobin. However, some genetic conditions whether linked to the β-globin gene cluster or not are associated with high Hb F levels in adults. Among those linked to β-globin are hereditary persistence of fetal hemoglobin, delta-beta thalassemia (δβ-Thalassemia) and the XmnI polymorphism (-158 C > T). Other polymorphisms not related to β-globin gene cluster are known to influence the γ-globin gene expression in adulthood. The most relevant polymorphisms that increase concentrations of Hb F are the HMIP locus on chromosome 6, the BCL11A locus on chromosome 2, the Xp22.2 region of the X chromosome and the 8q region on chromosome 8. Findings from our research group studying genetic factors involved in γ-globin gene regulation in adults without anemia in the northwestern region of São Paulo State showed that high Hb F levels are influenced by the presence of hereditary persistence of fetal hemoglobin mutations and the XmnI polymorphism, suggesting that both genetic alterations characterize the molecular basis of the evaluated population. |
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What influences Hb fetal production in adulthood?Fetal hemoglobinGenetic polymorphismgamma-GlobinsHuman hemoglobin genes are located in α and β globin gene clusters in chromosomes 16 and 11, respectively. Different types of hemoglobin are synthesized according to the stage of development with fetal hemoglobin (α2γ2) (Hb F) being the main hemoglobin in the fetal period. After birth, there is a reduction (to about 1%) in Hb F levels and adult hemoglobin, Hb A (2α2β2), increases to more than 96% of total hemoglobin. However, some genetic conditions whether linked to the β-globin gene cluster or not are associated with high Hb F levels in adults. Among those linked to β-globin are hereditary persistence of fetal hemoglobin, delta-beta thalassemia (δβ-Thalassemia) and the XmnI polymorphism (-158 C > T). Other polymorphisms not related to β-globin gene cluster are known to influence the γ-globin gene expression in adulthood. The most relevant polymorphisms that increase concentrations of Hb F are the HMIP locus on chromosome 6, the BCL11A locus on chromosome 2, the Xp22.2 region of the X chromosome and the 8q region on chromosome 8. Findings from our research group studying genetic factors involved in γ-globin gene regulation in adults without anemia in the northwestern region of São Paulo State showed that high Hb F levels are influenced by the presence of hereditary persistence of fetal hemoglobin mutations and the XmnI polymorphism, suggesting that both genetic alterations characterize the molecular basis of the evaluated population.Universidade Estadual Paulista IBILCE Laboratory of Hemoglobin and Genetics of Hematologic DiseasesUniversidade Estadual Paulista IBILCE Laboratory of Hemoglobin and Genetics of Hematologic DiseasesAssociação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula ÓsseaUniversidade Estadual Paulista (Unesp)Carrocini, Gisele Cristine de Souza [UNESP]Zamaro, Paula Juliana Antoniazzo [UNESP]Bonini-Domingos, Claudia Regina [UNESP]2014-05-20T14:00:35Z2014-05-20T14:00:35Z2011-06-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article231-236application/pdfhttp://dx.doi.org/10.5581/1516-8484.20110059Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, v. 33, n. 3, p. 231-236, 2011.1516-8484http://hdl.handle.net/11449/2142310.5581/1516-8484.20110059S1516-84842011000300017S1516-84842011000300017.pdf32794280661767190000-0002-4603-9467SciELOreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengRevista Brasileira de Hematologia e Hemoterapia0,335info:eu-repo/semantics/openAccess2024-01-18T06:29:50Zoai:repositorio.unesp.br:11449/21423Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T23:22:04.611634Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
What influences Hb fetal production in adulthood? |
title |
What influences Hb fetal production in adulthood? |
spellingShingle |
What influences Hb fetal production in adulthood? Carrocini, Gisele Cristine de Souza [UNESP] Fetal hemoglobin Genetic polymorphism gamma-Globins |
title_short |
What influences Hb fetal production in adulthood? |
title_full |
What influences Hb fetal production in adulthood? |
title_fullStr |
What influences Hb fetal production in adulthood? |
title_full_unstemmed |
What influences Hb fetal production in adulthood? |
title_sort |
What influences Hb fetal production in adulthood? |
author |
Carrocini, Gisele Cristine de Souza [UNESP] |
author_facet |
Carrocini, Gisele Cristine de Souza [UNESP] Zamaro, Paula Juliana Antoniazzo [UNESP] Bonini-Domingos, Claudia Regina [UNESP] |
author_role |
author |
author2 |
Zamaro, Paula Juliana Antoniazzo [UNESP] Bonini-Domingos, Claudia Regina [UNESP] |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Carrocini, Gisele Cristine de Souza [UNESP] Zamaro, Paula Juliana Antoniazzo [UNESP] Bonini-Domingos, Claudia Regina [UNESP] |
dc.subject.por.fl_str_mv |
Fetal hemoglobin Genetic polymorphism gamma-Globins |
topic |
Fetal hemoglobin Genetic polymorphism gamma-Globins |
description |
Human hemoglobin genes are located in α and β globin gene clusters in chromosomes 16 and 11, respectively. Different types of hemoglobin are synthesized according to the stage of development with fetal hemoglobin (α2γ2) (Hb F) being the main hemoglobin in the fetal period. After birth, there is a reduction (to about 1%) in Hb F levels and adult hemoglobin, Hb A (2α2β2), increases to more than 96% of total hemoglobin. However, some genetic conditions whether linked to the β-globin gene cluster or not are associated with high Hb F levels in adults. Among those linked to β-globin are hereditary persistence of fetal hemoglobin, delta-beta thalassemia (δβ-Thalassemia) and the XmnI polymorphism (-158 C > T). Other polymorphisms not related to β-globin gene cluster are known to influence the γ-globin gene expression in adulthood. The most relevant polymorphisms that increase concentrations of Hb F are the HMIP locus on chromosome 6, the BCL11A locus on chromosome 2, the Xp22.2 region of the X chromosome and the 8q region on chromosome 8. Findings from our research group studying genetic factors involved in γ-globin gene regulation in adults without anemia in the northwestern region of São Paulo State showed that high Hb F levels are influenced by the presence of hereditary persistence of fetal hemoglobin mutations and the XmnI polymorphism, suggesting that both genetic alterations characterize the molecular basis of the evaluated population. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-06-01 2014-05-20T14:00:35Z 2014-05-20T14:00:35Z |
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://dx.doi.org/10.5581/1516-8484.20110059 Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, v. 33, n. 3, p. 231-236, 2011. 1516-8484 http://hdl.handle.net/11449/21423 10.5581/1516-8484.20110059 S1516-84842011000300017 S1516-84842011000300017.pdf 3279428066176719 0000-0002-4603-9467 |
url |
http://dx.doi.org/10.5581/1516-8484.20110059 http://hdl.handle.net/11449/21423 |
identifier_str_mv |
Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, v. 33, n. 3, p. 231-236, 2011. 1516-8484 10.5581/1516-8484.20110059 S1516-84842011000300017 S1516-84842011000300017.pdf 3279428066176719 0000-0002-4603-9467 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Revista Brasileira de Hematologia e Hemoterapia 0,335 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
231-236 application/pdf |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea |
publisher.none.fl_str_mv |
Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea |
dc.source.none.fl_str_mv |
SciELO 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 |
|
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1808129511596752896 |