Heterozygous β thalassemia with triplication of the α globin gene.
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476 |
Resumo: | We describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia. The proposita, a 19 years old, gypsy, Portuguese woman presented with chronic mild anemia, jaundice and splenomegaly in spite of having the β-thalassemia trait. The analysis of the α-globin gene revealed heterozygosis for α-globin gene triplication with the presence of allele ααα(anti -3.7). This case brings again to discussion the complexity of genetic interactions underlying a phenotype of thalassemia intermedia and stresses the importance of looking for another cause in individuals with beta-Thalassemia minor uncommom phenotype. |
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Heterozygous β thalassemia with triplication of the α globin gene.Talassemia β heterozigotica com triplicação do gene α globínico.We describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia. The proposita, a 19 years old, gypsy, Portuguese woman presented with chronic mild anemia, jaundice and splenomegaly in spite of having the β-thalassemia trait. The analysis of the α-globin gene revealed heterozygosis for α-globin gene triplication with the presence of allele ααα(anti -3.7). This case brings again to discussion the complexity of genetic interactions underlying a phenotype of thalassemia intermedia and stresses the importance of looking for another cause in individuals with beta-Thalassemia minor uncommom phenotype.We describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia. The proposita, a 19 years old, gypsy, Portuguese woman presented with chronic mild anemia, jaundice and splenomegaly in spite of having the β-thalassemia trait. The analysis of the α-globin gene revealed heterozygosis for α-globin gene triplication with the presence of allele ααα(anti -3.7). This case brings again to discussion the complexity of genetic interactions underlying a phenotype of thalassemia intermedia and stresses the importance of looking for another cause in individuals with beta-Thalassemia minor uncommom phenotype.Ordem dos Médicos2011-12-12info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476oai:ojs.www.actamedicaportuguesa.com:article/476Acta Médica Portuguesa; Vol. 24 No. 4 (2011): Julho-Agosto; 633-6Acta Médica Portuguesa; Vol. 24 N.º 4 (2011): Julho-Agosto; 633-61646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476/184Constanço, Ma ConceiçãoRocha, PaulaBento, CelesteSilva, Helena Minfo:eu-repo/semantics/openAccess2022-12-20T10:56:19Zoai:ojs.www.actamedicaportuguesa.com:article/476Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:16:31.151906Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Heterozygous β thalassemia with triplication of the α globin gene. Talassemia β heterozigotica com triplicação do gene α globínico. |
title |
Heterozygous β thalassemia with triplication of the α globin gene. |
spellingShingle |
Heterozygous β thalassemia with triplication of the α globin gene. Constanço, Ma Conceição |
title_short |
Heterozygous β thalassemia with triplication of the α globin gene. |
title_full |
Heterozygous β thalassemia with triplication of the α globin gene. |
title_fullStr |
Heterozygous β thalassemia with triplication of the α globin gene. |
title_full_unstemmed |
Heterozygous β thalassemia with triplication of the α globin gene. |
title_sort |
Heterozygous β thalassemia with triplication of the α globin gene. |
author |
Constanço, Ma Conceição |
author_facet |
Constanço, Ma Conceição Rocha, Paula Bento, Celeste Silva, Helena M |
author_role |
author |
author2 |
Rocha, Paula Bento, Celeste Silva, Helena M |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Constanço, Ma Conceição Rocha, Paula Bento, Celeste Silva, Helena M |
description |
We describe a case in which the interaction of heterozygosis for the mutation Beta IVSI - 110 G> A and the ααα(anti 3,7) allele was the likely cause of the clinical occurrence of thalassemia intermedia. The proposita, a 19 years old, gypsy, Portuguese woman presented with chronic mild anemia, jaundice and splenomegaly in spite of having the β-thalassemia trait. The analysis of the α-globin gene revealed heterozygosis for α-globin gene triplication with the presence of allele ααα(anti -3.7). This case brings again to discussion the complexity of genetic interactions underlying a phenotype of thalassemia intermedia and stresses the importance of looking for another cause in individuals with beta-Thalassemia minor uncommom phenotype. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-12-12 |
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 |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476 oai:ojs.www.actamedicaportuguesa.com:article/476 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/476 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/476/184 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 24 No. 4 (2011): Julho-Agosto; 633-6 Acta Médica Portuguesa; Vol. 24 N.º 4 (2011): Julho-Agosto; 633-6 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799130619144306688 |