Data/hora: 09/06/2024 05:51:16

Provedor de dados: | 74
País: | Brazil
Título: | Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
Autores: | Adorno,Elisângela Vitória; Zanette,Ângela; Lyra,Isa; Seixas,Magda Oliveira; Reis,Mitermayer Galvão; Gonçalves,Marilda Souza.
Data: | 2008-01-01
Ano: | 2008
Palavras-chave: | Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal); ΒS-globin gene haplotypes; Fetal hemoglobin.
Resumo: | 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 &gt; 18 y, those aged &lt; 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).
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572008000400003
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.31 n.3 2008
Fonte: | info:eu-repo/semantics/openAccess