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Please use this identifier to cite or link to this item: http://repositorio.ufba.br/ri/handle/ri/3290

Title: ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
Other Titles: Brazilian Journal of Medical and Biological Research
Authors: Gonçalves, Marilda Souza
Bomfim, Gilberto Cafezeiro
Maciel, Elves Anderson Pires
Siqueira, Isadora Cristina de
Adorno, Elisângela Vitória
Albuquerque, Arlete Barreto Lins de
Fernandes, Gilênio Borges
Reis, Mitermayer Galvão dos
Lyra, Isa Menezes
Zanette, Angela Maria Dias
Pontes, Angela Maria de Carvalho
Dupuit, Marie France
Bomfim, Glória
Keywords: Beta(S)-haplotypes;Fetal hemoglobin;Sickle cell anemia;S hemoglobin;Brazilian population
Issue Date: 2003
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.
Description: p. 1283-1288
URI: http://www.repositorio.ufba.br/ri/handle/ri/3290
ISSN: 1678-4510
Appears in Collections:Artigos Publicados em Periódicos (FARMACIA)

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