Author | Adorno, Elisângela Vitória | |
Author | Zanette, Angela Maria Dias | |
Author | Lyra, Isa Menezes | |
Author | Souza, Cyntia Cajado de | |
Author | Santos, Leandro Ferraz | |
Author | Menezes, Joelma Figueiredo | |
Author | Dupuit, Marie France | |
Author | Almeida, Mari Ney Tavares | |
Author | Reis, Mitermayer Galvão dos | |
Author | Gonçalves, Marilda de Souza | |
Access date | 2012-10-30T21:04:13Z | |
Available date | 2012-10-30T21:04:13Z | |
Document date | 2004 | |
Citation | ADORNO, Elisângela Vitória. et al. The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. Hemoglobin, v. 28, n. 3, p. 267-271, Aug. 2004. | pt_BR |
ISSN | 0363-0269 | |
URI | https://www.arca.fiocruz.br/handle/icict/5745 | |
Language | eng | pt_BR |
Rights | open access | pt_BR |
Title | The beta-globin gene cluster haplotypes in sickle cell anemia patients from Northeast Brazil: a clinical and molecular view. | pt_BR |
Type | Article | pt_BR |
Abstract | The beta(S)-globin haplotypes were studied in 78 sickle cell Brazilian patients from Bahia, Northeast Brazil, that has a large population of African origin. Hemoglobin (Hb) profiles were developed by high-performance liquid chromatography (HPLC), and beta(S)-globin gene haplotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. We identified 44 (55.0%) patients with the CAR/Ben (Central African Republic/Benin) genotype, 16 (20.0%) Ben/Ben, 13 (16.2%) CAR/CAR and seven (8.8%) with other genotypes. Analyses of the phenotypes showed clinical differences related only to Hb F levels and blood transfusion therapy; the presence of -alpha(-3.7)-thalassemia (thal) demonstrated statistical significance when associated with hematocrit (p=0.044), MCV (p=0.0007), MCH (p=0.012) and spleen sequestration events. The haplotype diversity found in the present study can be justified by information about the origin of the slave traffic period in Bahia during the 19th century. The specific characteristics described among the Bahian sickle cell patients could be confirmed by increasing the number of patients with specific genotypes and further studies of genetic markers. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação de Hematologia e Hemoterapia da Bahia. Ambulatório de Hematologia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação de Hematologia e Hemoterapia da Bahia. Ambulatório de Hematologia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. | pt_BR |
Affilliation | Universidade Federal da Bahia. Campus Universitário de Ondina. Salvador, BA, Brasil. | pt_BR |
Affilliation | Universidade Federal da Bahia. Campus Universitário de Ondina. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil. | pt_BR |
Subject | b-Globin haplotypes | pt_BR |
Subject | Sickle cell anemia | pt_BR |
Subject | Northeast Brazil | pt_BR |
Subject | Slave trade | pt_BR |
DeCS | Anemia Falciforme/genética | pt_BR |
DeCS | Globinas/genética | pt_BR |
DeCS | Haplotipos/genética | pt_BR |
DeCS | Família Multigênica/genética | pt_BR |
DeCS | Anemia Falciforme/sangue | pt_BR |
DeCS | Anemia Falciforme/patologia | pt_BR |
DeCS | Cromatografia Líquida de Alta Pressão | pt_BR |
DeCS | Hemoglobina Fetal/análise | pt_BR |
DeCS | Hemoglobina Fetal/genética | pt_BR |
DeCS | Genótipo | pt_BR |
DeCS | Globinas/análise | pt_BR |
DeCS | Hemoglobinas Anormais/análise | pt_BR |
DeCS | Hemoglobinas Anormais/genética | pt_BR |
DeCS | Reação em Cadeia da Polimerase | pt_BR |
DeCS | Polimorfismo de Fragmento de Restrição | pt_BR |