|
|
|
|
|
| Castro,Simone M. de; Weber,Raquel; Matte,Úrsula; Giugliani,Roberto. |
| Glucose-6-phosphate dehydrogenase (G6PDH; EC 1.1.1.49) deficiency is one of the most common human enzymopathies throughout the world. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundice and acute hemolytic anemia which can be triggered by infection, some pharmaceuticals and, in older individuals, eating fava beans. We characterized the molecular basis of G6PDH deficiency in a sample of 348 adults from Porto Alegre (population about 1.5 million), the capital of the southernmost Brazilian state of Rio Grande do Sul. Genomic DNA was extracted from peripheral blood leukocytes. We studied the three G6PDH mutations that appear to be the most frequent in Southern Brazil, the G202A and A376G A minus (A-) variants and the C563T... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: G6PDH deficiency; Hemolytic anemia; Pentose pathway. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100003 |
| |
|
|
| 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 < 80 fL) and a normal hemoglobin pattern (Hb A2 < 3.5% and Hb F < 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 |
| |
|
| |
|
|
|
