Consulta: creatorFacets:"Wagner,Sandrine C."
Registros recuperados: 2
Data/hora: 02/06/2024 05:03:28

Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
Provedor de dados: Genetics and Molecular Biology
Autores: Wagner,Sandrine C.; Castro,Simone M. de; Gonzalez,Tatiana P.; Santin,Ana P.; Filippon,Leticia; Zaleski,Carina F.; Azevedo,Laura A.; Amorin,Bruna; Callegari-Jacques,Sidia M.; Hutz,Mara H.
Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV &lt; 80 fL) and a normal hemoglobin pattern (Hb A2 &lt; 3.5% and Hb F &lt; 1%). The subjects were screened for -α3.7,-α4.2,-α20.5, -SEA and -MED deletions but only the -α3.7 allele was detected. The -α3.7 allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alpha-thalassemia; Brazilian population; Genotype; Hemoglobin; Microcytosis.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400008

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes
Provedor de dados: Genetics and Molecular Biology
Autores: Lindenau,Juliana D.; Wagner,Sandrine C.; Castro,Simone M. de; Hutz,Mara H.
Abstract Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of βS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: ΒS globin haplotypes; Sickle cell disease; Hemoglobin S; Migration.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400515