ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
Braz. j. med. biol. res
; 36(10): 1283-1288, Oct. 2003. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-346480
Biblioteca responsável:
BR1.1
RESUMO
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 percent) chromosomes were characterized as Central African Republic (CAR) haplotype, 73 (45.6 percent) as Benin (BEN), 1 (0.63 percent) as Senegal (SEN), and 9 (5.63 percent) as atypical (Atp). Genotype was CAR/CAR in 17 (21.3 percent) patients, BEN/BEN in 17 (21.3 percent), CAR/BEN in 37 (46.3 percent), BEN/SEN in 1 (1.25 percent), BEN/Atp in 1 (1.25 percent), CAR/Atp in 6 (7.5 percent), and Atp/Atp in 1 (1.25 percent). Hemoglobin concentrations and hematocrit values did not differ among genotype groups but were significantly higher in 25 patients presenting percent fetal hemoglobin ( percentHbF) > or = 10 percent (P = 0.002 and 0.003, respectively). The median HbF concentration was 7.54 ± 4.342 percent for the CAR/CAR genotype, 9.88 ± 3.558 percent for the BEN/BEN genotype, 8.146 ± 4.631 percent for the CAR/BEN genotype, and 4.180 ± 2.250 percent for the CAR/Atp genotype (P = 0.02), although 1 CAR/CAR individual presented an HbF concentration as high as 15 percent. 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
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Haplótipos
/
Hemoglobina Fetal
/
Globinas
/
Anemia Falciforme
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
África
/
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2003
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Brasil
Instituição/País de afiliação:
FIOCRUZ/BR
/
Fundaçäo Hemocentro da Bahia/BR
/
Universidade Federal da Bahia/BR