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

• Autor(a) principal: Wagner, Sandrine Comparsi
• Data de Publicação: 2010
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/87721
• topic: Estatística aplicada : Medicina; Genótipo; Anemia microcítica; Alpha-thalassemia; Brazilian population; Genotype; Hemoglobin; Microcytosis

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.