Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
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 Brazilia...
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| Format: | Article |
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Sociedade Brasileira de Genética
2008-01-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003 |
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| author | Elisângela Vitória Adorno Ângela Zanette Isa Lyra Magda Oliveira Seixas Mitermayer Galvão Reis Marilda Souza Gonçalves |
| author_facet | Elisângela Vitória Adorno Ângela Zanette Isa Lyra Magda Oliveira Seixas Mitermayer Galvão Reis Marilda Souza Gonçalves |
| author_sort | Elisângela Vitória Adorno |
| collection | DOAJ |
| description | 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). |
| first_indexed | 2024-12-11T18:19:31Z |
| format | Article |
| id | doaj.art-0c6e7317bbf349f98d7a52ac9c5d0507 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-11T18:19:31Z |
| publishDate | 2008-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-0c6e7317bbf349f98d7a52ac9c5d05072022-12-22T00:55:19ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852008-01-0131362162510.1590/S1415-47572008000400003Clinical and molecular characteristics of sickle cell anemia in the northeast of BrazilElisângela Vitória AdornoÂngela ZanetteIsa LyraMagda Oliveira SeixasMitermayer Galvão ReisMarilda Souza GonçalvesBeta 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).http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal)βS-globin gene haplotypesFetal hemoglobin |
| spellingShingle | Elisângela Vitória Adorno Ângela Zanette Isa Lyra Magda Oliveira Seixas Mitermayer Galvão Reis Marilda Souza Gonçalves Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil Genetics and Molecular Biology alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal) βS-globin gene haplotypes Fetal hemoglobin |
| title | Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil |
| title_full | Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil |
| title_fullStr | Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil |
| title_full_unstemmed | Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil |
| title_short | Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil |
| title_sort | clinical and molecular characteristics of sickle cell anemia in the northeast of brazil |
| topic | alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal) βS-globin gene haplotypes Fetal hemoglobin |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003 |
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