Genetics and Molecular Biology | |
Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil | |
Elisângela Vitória Adorno2  Ângela Zanette1  Isa Lyra1  Magda Oliveira Seixas2  Mitermayer Galvão Reis2  Marilda Souza Gonçalves2  | |
[1] ,Fundação Oswaldo Cruz Centro de Pesquisas Gonçalo Moniz Laboratório de Patologia e Biologia MolecularSalvador BA ,Brazil | |
关键词: alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal); βS-globin gene haplotypes; Fetal hemoglobin; | |
DOI : 10.1590/S1415-47572008000400003 | |
来源: SciELO | |
【 摘 要 】
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).
【 授权许可】
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