Genetics and Molecular Biology
| Autor: | Adorno, Elisângela Vitória, Zanette, Angela Maria Dias, Lyra, Isa Menezes, Seixas, Magda Oliveira, Reis, Mitermayer Galvão, Gonçalves, Marilda Souza |
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| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: | |
| Zdroj: | Repositório Institucional da UFBA Universidade Federal da Bahia (UFBA) instacron:UFBA |
| ISSN: | 1415-4757 |
| DOI: | 10.1590/S1415-47572008000400003 |
| Popis: | p. 621-625 Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-11-25T14:17:13Z No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-26T12:51:40Z (GMT) No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Made available in DSpace on 2013-11-26T12:51:40Z (GMT). No. of bitstreams: 1 1415-47572008000400003.pdf: 162761 bytes, checksum: 27d3fead2afaca2ccb87406eceabf25d (MD5) Previous issue date: 2008 Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 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 -α23.7 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). |
| Databáze: | OpenAIRE |
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