Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil
<abstract language="eng">Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory dia...
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| Format: | Article |
| Language: | English |
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Elsevier
2003-06-01
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| Series: | Revista Brasileira de Hematologia e Hemoterapia |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842003000200009 |
| _version_ | 1818292689239539712 |
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| author | Claudia R. Bonini-Domingos Ana C. Bonini-Domingos Ana R. Chinelato Paula J. A. Zamaro Patrícia H. O. Calderan |
| author_facet | Claudia R. Bonini-Domingos Ana C. Bonini-Domingos Ana R. Chinelato Paula J. A. Zamaro Patrícia H. O. Calderan |
| author_sort | Claudia R. Bonini-Domingos |
| collection | DOAJ |
| description | <abstract language="eng">Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described. |
| first_indexed | 2024-12-13T03:03:57Z |
| format | Article |
| id | doaj.art-29e5da22cfea4bc08d0717cc478d698a |
| institution | Directory Open Access Journal |
| issn | 1516-8484 1806-0870 |
| language | English |
| last_indexed | 2024-12-13T03:03:57Z |
| publishDate | 2003-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Revista Brasileira de Hematologia e Hemoterapia |
| spelling | doaj.art-29e5da22cfea4bc08d0717cc478d698a2022-12-22T00:01:46ZengElsevierRevista Brasileira de Hematologia e Hemoterapia1516-84841806-08702003-06-0125211812110.1590/S1516-84842003000200009Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in BrazilClaudia R. Bonini-DomingosAna C. Bonini-DomingosAna R. ChinelatoPaula J. A. ZamaroPatrícia H. O. Calderan<abstract language="eng">Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil. The laboratory diagnosis of hemoglobinopathies, including thalassemias, is growing in importance, particularly because of an increasing requirement for neonatal diagnosis of abnormal hemoglobins. Screening tests were carried out using alkaline and acid electrophoresis, globin-chain analysis by cellulose acetate in alkaline pH, isoelectric focusing and HPLC. The molecular characterization was made by PCR-ASO for Hb C and beta thalassemia mutants. Large-scale screening and discriminative methodologies must provide information about the hemoglobin polymorphisms in Brazilian population. HPLC is a powerful tool in these cases. Molecular characterization is important to genetic counseling and clinical management, in particular for the Brazilian population that have an intense racial admixture, with great variability of hemoglobins. In this paper an association between Hb C and beta thalassemia (IVS-II-654) in a black family from Brazil was described.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842003000200009 |
| spellingShingle | Claudia R. Bonini-Domingos Ana C. Bonini-Domingos Ana R. Chinelato Paula J. A. Zamaro Patrícia H. O. Calderan Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil Revista Brasileira de Hematologia e Hemoterapia |
| title | Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil |
| title_full | Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil |
| title_fullStr | Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil |
| title_full_unstemmed | Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil |
| title_short | Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil |
| title_sort | interacao entre hb c beta6 a3 glu lys e ivs ii 654 c t beta talassemia no brasil hb c beta6 a3 glu lys and ivs ii 654 c t beta thalassemia interaction in brazil |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842003000200009 |
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