ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2003 |
| Outros Autores: | , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da UFBA |
| Texto Completo: | http://www.repositorio.ufba.br/ri/handle/ri/3290 |
Resumo: | p. 1283-1288 |
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Gonçalves, Marilda SouzaBomfim, Gilberto CafezeiroMaciel, Elves Anderson PiresSiqueira, Isadora Cristina deAdorno, Elisângela VitóriaAlbuquerque, Arlete Barreto Lins deFernandes, Gilênio BorgesReis, Mitermayer Galvão dosLyra, Isa MenezesZanette, Angela Maria DiasPontes, Angela Maria de CarvalhoDupuit, Marie FranceBomfim, GlóriaGonçalves, Marilda SouzaBomfim, Gilberto CafezeiroMaciel, Elves Anderson PiresSiqueira, Isadora Cristina deAdorno, Elisângela VitóriaAlbuquerque, Arlete Barreto Lins deFernandes, Gilênio BorgesReis, Mitermayer Galvão dosLyra, Isa MenezesZanette, Angela Maria DiasPontes, Angela Maria de CarvalhoDupuit, Marie FranceBomfim, Glória2011-10-13T12:24:29Z2011-10-13T12:24:29Z20031678-4510http://www.repositorio.ufba.br/ri/handle/ri/329036(10)p. 1283-1288ßS-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.Submitted by Ana Valéria de Jesus Moura (anavaleria_131@hotmail.com) on 2011-10-13T12:24:29Z No. of bitstreams: 1 4526.pdf: 585067 bytes, checksum: cb0d25b2f356bbb59ad509d85a02d8a8 (MD5)Made available in DSpace on 2011-10-13T12:24:29Z (GMT). No. of bitstreams: 1 4526.pdf: 585067 bytes, checksum: cb0d25b2f356bbb59ad509d85a02d8a8 (MD5) Previous issue date: 2003Beta(S)-haplotypesFetal hemoglobinSickle cell anemiaS hemoglobinBrazilian populationßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern BrazilBrazilian Journal of Medical and Biological Researchinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleengreponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAinfo:eu-repo/semantics/openAccessORIGINAL4526.pdf4526.pdfapplication/pdf585067https://repositorio.ufba.br/bitstream/ri/3290/1/4526.pdfcb0d25b2f356bbb59ad509d85a02d8a8MD51LICENSElicense.txtlicense.txttext/plain1918https://repositorio.ufba.br/bitstream/ri/3290/2/license.txt3f6f3250778c4fb58ba14038cd4e8c8aMD52TEXT4526.pdf.txt4526.pdf.txtExtracted texttext/plain23354https://repositorio.ufba.br/bitstream/ri/3290/3/4526.pdf.txt95a14eaa4981b9f15527e62144732d21MD53ri/32902022-07-05 14:03:28.824oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:28Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false |
| dc.title.pt_BR.fl_str_mv |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil |
| dc.title.alternative.pt_BR.fl_str_mv |
Brazilian Journal of Medical and Biological Research |
| title |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil |
| spellingShingle |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil Gonçalves, Marilda Souza Beta(S)-haplotypes Fetal hemoglobin Sickle cell anemia S hemoglobin Brazilian population |
| title_short |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil |
| title_full |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil |
| title_fullStr |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil |
| title_full_unstemmed |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil |
| title_sort |
ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil |
| author |
Gonçalves, Marilda Souza |
| author_facet |
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 |
| author_role |
author |
| author2 |
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 |
| author2_role |
author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
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 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 |
| dc.subject.por.fl_str_mv |
Beta(S)-haplotypes Fetal hemoglobin Sickle cell anemia S hemoglobin Brazilian population |
| topic |
Beta(S)-haplotypes Fetal hemoglobin Sickle cell anemia S hemoglobin Brazilian population |
| description |
p. 1283-1288 |
| publishDate |
2003 |
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2003 |
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2011-10-13T12:24:29Z |
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2011-10-13T12:24:29Z |
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info:eu-repo/semantics/article |
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1678-4510 |
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36(10) |
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1678-4510 36(10) |
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