Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/5985
Title: ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
Authors: Gonçalves, Marilda de Souza
Arruda, Maria da Gloria Bomfim
Maciel, Elves Anderson Pires
Cerqueira, I.
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Arruda, Maria da Gloria Bomfim
Adorno, Elisângela Vitória
Albuquerque, Alessandra B. Lima
Pontes, A.
Dupuit, Marie France
Fernandes, G. B.
Reis, Mitermayer Galvão dos
Affilliation: Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Secretaria de Saúde do Estado da Bahia. Fundação Hemocentro da Bahia. Salvador, BA, Brasil.
Secretaria de Saúde do Estado da Bahia. Fundação Hemocentro da Bahia. Salvador, BA, Brasil.
Hospital Professor Edgar Santos. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Faculdade de Farmácia. Laboratório de Biologia Molecular. Salvador, BA, Brasil.
Faculdade de Farmácia. Laboratório de Biologia Molecular. Salvador, BA, Brasil.
Universidade Federal da Bahia. Instituto de Matemática. Salvador, BA, Brasil.
Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil.
Abstract: ßS-Globin haplotypes were studied in 80 (160 ßS chromosomes) sickle cell disease patients from Salvador, Brazil, a city with a large population of African origin resulting from the slave trade from Western Africa, mainly from the Bay of Benin. Hematological and hemoglobin analyses were carried out by standard methods. The ßS-haplotypes were determined by PCR and dot-blot techniques. A total of 77 (48.1%) chromosomes were characterized as Central African Republic (CAR) haplotype, 73 (45.6%) as Benin (BEN), 1 (0.63%) as Senegal (SEN), and 9 (5.63%) as atypical (Atp). Genotype was CAR/ CAR in 17 (21.3%) patients, BEN/BEN in 17 (21.3%), CAR/BEN in 37 (46.3%), BEN/SEN in 1 (1.25%), BEN/Atp in 1 (1.25%), CAR/Atp in 6 (7.5%), and Atp/Atp in 1 (1.25%). Hemoglobin concentrations and hematocrit values did not differ among genotype groups but were significantly higher in 25 patients presenting percent fetal hemoglobin (%HbF) ≥10% (P = 0.002 and 0.003, respectively). The median HbF concentration was 7.54 ± 4.342% for the CAR/CAR genotype, 9.88 ± 3.558% for the BEN/BEN genotype, 8.146 ± 4.631% for the CAR/ BEN genotype, and 4.180 ± 2.250% for the CAR/Atp genotype (P = 0.02), although 1 CAR/CAR individual presented an HbF concentration as high as 15%. In view of the ethnic and geographical origin of this population, we did not expect a Hardy-Weinberg equilibrium for CAR/CAR and BEN/BEN homozygous haplotypes and a high proportion of heterozygous CAR/BEN haplotypes since the State of Bahia historically received more slaves from Western Africa than from Central Africa.
Keywords: Beta(S)-haplotypes
Fetal hemoglobin
Sickle cell anemia
S hemoglobin
Brazilian population
DeCS: Anemia Falciforme/genética
Hemoglobina Fetal/análise
Globinas/genética
Haplotipos/genética
Anemia Falciforme/sangue
Anemia Falciforme/etnologia
Brasil
República Centro-Africana/etnologia
Benin/etnologia
Hemoglobina Fetal/genética
Genótipo
Immunoblotting
Reação em Cadeia da Polimerase
Senegal/etnologia
Humanos
Masculino
Feminino
Issue Date: 2003
Citation: GONÇALVES, M. S. et al. ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil. Brazilian Journal of Medical Biological Research, v. 36, n. 10, p. 1283-1288, Oct. 2003.
ISSN: 0100-879X
Copyright: open access
Appears in Collections:BA - IGM - Artigos de Periódicos

Files in This Item:
File Description SizeFormat 
Gonçalves, M.S. BS-haplotypes in sickle....pdf571.35 kBAdobe PDFThumbnail
View/Open


FacebookTwitterDeliciousLinkedInGoogle BookmarksBibTex Format mendeley Endnote DiggMySpace

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.