ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
| Autor: | G.C. Bomfim, A. Pontes, Elisângela Vitória Adorno, Angela A. D. Zanette, M.G. dos Reis, A. Albuquerque, Elves Anderson Pires Maciel, Marilda Souza Goncalves, M.F. Dupuit, I. Cerqueira, Isa Menezes Lyra, G. Bomfim, G.B. Fernandes |
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| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Male
Veterinary medicine Genotype Physiology Immunology Population Immunoblotting S hemoglobin Biophysics Beta(S)-haplotypes Anemia Sickle Cell Hematocrit Biology Biochemistry Polymerase Chain Reaction Brazilian population Fetal hemoglobin medicine Benin Humans General Pharmacology Toxicology and Pharmaceutics education lcsh:QH301-705.5 education.field_of_study lcsh:R5-920 medicine.diagnostic_test General Neuroscience Haplotype Central africa Cell Biology General Medicine medicine.disease Sickle cell anemia Senegal Globins Central African Republic Haplotypes lcsh:Biology (General) Female Hemoglobin lcsh:Medicine (General) human activities Brazil |
| Zdroj: | Brazilian Journal of Medical and Biological Research, Vol 36, Iss 10, Pp 1283-1288 (2003) Brazilian Journal of Medical and Biological Research v.36 n.10 2003 Brazilian Journal of Medical and Biological Research Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC Brazilian Journal of Medical and Biological Research, Volume: 36, Issue: 10, Pages: 1283-1288, Published: OCT 2003 |
| ISSN: | 0034-7310 |
| Popis: | BetaS-Globin haplotypes were studied in 80 (160 betaS 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 betaS-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)or = 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. |
| Databáze: | OpenAIRE |
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