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Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS Genet. Mol. Biol.
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
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Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: report of a novel mutation Genet. Mol. Biol.
Sánchez-López,Josefina Y.; Camacho-Torres,Ana L.; Ibarra,Bertha; Tintos,Jesús A.; Perea,Francisco J..
We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis. This frameshift mutation is predicted to result in a truncated and unstable protein lacking normal functions.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hereditary spherocytosis; Hemolytic anemia; SLC4A1 gene; AE1 protein; Band 3.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100003
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Allium species poisoning in dogs and cats J. Venom. Anim. Toxins incl. Trop. Dis.
Salgado,BS; Monteiro,LN; Rocha,NS.
Dogs and cats are the animals that owners most frequently seek assistance for potential poisonings, and these species are frequently involved with toxicoses due to ingestion of poisonous food. Feeding human foodstuff to pets may prove itself dangerous for their health, similarly to what is observed in Allium species toxicosis. Allium species toxicosis is reported worldwide in several animal species, and the toxic principles present in them causes the transformation of hemoglobin into methemoglobin, consequently resulting in hemolytic anemia with Heinz body formation. The aim of this review is to analyze the clinicopathologic aspects and therapeutic approach of this serious toxicosis of dogs and cats in order to give knowledge to veterinarians about Allium...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Allium spp.; Poisonous plants; Hemolytic anemia; Heinz bodies.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1678-91992011000100002
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