Author | Adorno, Elisângela Vitória | |
Author | Zanette, Angela Maria Dias | |
Author | Lyra, Isa Menezes | |
Author | Seixas, Magda Oliveira | |
Author | Reis, Mitermayer Galvão dos | |
Author | Gonçalves, Marilda de Souza | |
Access date | 2013-01-11T20:52:27Z | |
Available date | 2013-01-11T20:52:27Z | |
Document date | 2008 | |
Citation | ADORNO, E. V. et al. Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil. Genetics and Molecular Biology, v. 31, n. 3, p. 621-625, 2008. | pt_BR |
ISSN | 1415-4757 | |
URI | https://www.arca.fiocruz.br/handle/icict/6175 | |
Language | eng | pt_BR |
Rights | open access | |
Title | Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil | pt_BR |
Type | Article | pt_BR |
Abstract | Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2
gene 3.7 kb deletion (-α2
3.7 kb thal) along with demographic and clinical data were investigated in SCA outpatients
(n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed
that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin
(Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident.
The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical
haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to those > 18 y, those aged ≤ 18 y had
had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36) but a higher frequency of spleen
sequestration and pneumonia. Compared with normal α - genes carriers values, the outpatients with -α2
3.7 kb thal (determined
by PCR analysis) had significantly higher mean hemoglobin concentration (Hb) (8.3 ± 1.34 g/dL, p = 0.018) and
packed cell volume (PCV = 27.1% ± 4.26, p = 0.019) but low mean corpuscular volume (MCV = 86.1 fL = 10-15 L ± 9.56,
p = 0.0004) and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039). | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, Bahia, Brasil / Hospital São Rafael. Salvador, Bahia, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brazil | pt_BR |
Affilliation | Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Universidade Federal da Bahia. Faculdade de Farmácia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Centro de Pesquisas Gonçalo Moniz. Salvador, BA, Brasil | pt_BR |
Subject | alpha-thalassemia 2 gene 3.7 kb deletion (-α2 3.7 thal) | pt_BR |
Subject | βS-globin gene haplotypes | pt_BR |
Subject | Fetal hemoglobin | pt_BR |