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High prevalence of alpha-thalassemia among individuals with microcytosis and hypochromia without anemia BJMBR
Borges,E.; Wenning,M.R.S.C.; Kimura,E.M.; Gervásio,S.A.; Costa,F.F.; Sonati,M.F..
In order to determine the contribution of alpha-thalassemia to microcytosis and hypochromia, 339 adult outpatients seen at Unicamp University Hospital (with the exception of the Clinical Hematology outpatient clinics), who showed normal hemoglobin (Hb) levels and reduced mean corpuscular volume and mean corpuscular hemoglobin, were analyzed. Ninety-eight were Blacks (28.9%) and 241 were Caucasians (71.1%). In all cases, Hb A2 and F levels were either normal or low. The most common deletional and nondeletional forms of alpha-thalassemia [-alpha3.7, -alpha4.2, --MED, -(alpha)20.5, alphaHphIalpha, alphaNcoIalpha, <FONT FACE="Symbol">aa</FONT>NcoI and alphaTSAUDI] were investigated by PCR and restriction enzyme analyses. A total of 169 individuals...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Alpha-thalassemia; Microcytosis; Hypochromia; Hemoglobinopathies; Brazilian population.
Ano: 2001 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000600009
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Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia Genet. Mol. Biol.
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
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