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Prevalence of common α-thalassemia determinants in south Brazil : importance for the diagnosis of microcytic anemia

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Prevalence of common α-thalassemia determinants in south Brazil : importance for the diagnosis of microcytic anemia

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Título Prevalence of common α-thalassemia determinants in south Brazil : importance for the diagnosis of microcytic anemia
Autor Wagner, Sandrine Comparsi
Castro, Simone Martins de
Gonzalez, Tatiana Pereira
Santin, Ana Paula
Filippon, Letícia
Zaleski, Carina da Fontoura
Azevedo, Laura Alencastro de
Amorin, Bruna
Callegari-Jacques, Sidia Maria
Hutz, Mara Helena
Abstract 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 -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 - 3.7, - 4.2, - 20.5, —SEA and—MED deletions but only the - 3.7 allele was detected. The - 3.7 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 -thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with - 3.7/ , - 3.7/- 3.7 and -thalassemia trait compared to healthy subjects. These data suggest that -thalassemia is an important cause of microcytosis and mild anemia in Brazilians.
Contido em Genetics and molecular biology. Ribeirão Preto, SP. Vol. 13, no. 4 (sept. 2010), p. 641-645
Assunto Anemia microcítica
Estatística aplicada : Medicina
Genótipo
[en] alpha-thalassemia
[en] Brazilian population
[en] genotype
[en] hemoglobin
[en] microcytosis
Origem Estrangeiro
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/87721
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