Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 1998 |
| Outros Autores: | , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Genetics and Molecular Biology |
| Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002 |
Resumo: | We report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C®T polymorphism at codon 2. In combination with the bS gene, this mutation results in very mild sickle cell disease symptoms. |
| id |
SBG-1_49cf4b43b662a7eb01d14a2149d83e9b |
|---|---|
| oai_identifier_str |
oai:scielo:S1415-47571998000400002 |
| network_acronym_str |
SBG-1 |
| network_name_str |
Genetics and Molecular Biology |
| repository_id_str |
|
| spelling |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutationWe report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C®T polymorphism at codon 2. In combination with the bS gene, this mutation results in very mild sickle cell disease symptoms.Sociedade Brasileira de Genética1998-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002Genetics and Molecular Biology v.21 n.4 1998reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47571998000400002info:eu-repo/semantics/openAccessSonati,Maria de FátimaKaeda,JaspalKimura,Elza MiyukiCosta,Fernando FerreiraLuzzatto,Lucioeng1999-03-01T00:00:00Zoai:scielo:S1415-47571998000400002Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:1999-03-01T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
| dc.title.none.fl_str_mv |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation |
| title |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation |
| spellingShingle |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation Sonati,Maria de Fátima |
| title_short |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation |
| title_full |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation |
| title_fullStr |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation |
| title_full_unstemmed |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation |
| title_sort |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation |
| author |
Sonati,Maria de Fátima |
| author_facet |
Sonati,Maria de Fátima Kaeda,Jaspal Kimura,Elza Miyuki Costa,Fernando Ferreira Luzzatto,Lucio |
| author_role |
author |
| author2 |
Kaeda,Jaspal Kimura,Elza Miyuki Costa,Fernando Ferreira Luzzatto,Lucio |
| author2_role |
author author author author |
| dc.contributor.author.fl_str_mv |
Sonati,Maria de Fátima Kaeda,Jaspal Kimura,Elza Miyuki Costa,Fernando Ferreira Luzzatto,Lucio |
| description |
We report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C®T polymorphism at codon 2. In combination with the bS gene, this mutation results in very mild sickle cell disease symptoms. |
| publishDate |
1998 |
| dc.date.none.fl_str_mv |
1998-12-01 |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400002 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
10.1590/S1415-47571998000400002 |
| 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 |
Sociedade Brasileira de Genética |
| publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
| dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.21 n.4 1998 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
| instname_str |
Sociedade Brasileira de Genética (SBG) |
| instacron_str |
SBG |
| institution |
SBG |
| reponame_str |
Genetics and Molecular Biology |
| collection |
Genetics and Molecular Biology |
| repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
| repository.mail.fl_str_mv |
||editor@gmb.org.br |
| _version_ |
1752122377037152256 |