Revista Brasileira de Hematologia e Hemoterapia
versión On-line ISSN 1806-0870
CANCADO, Rodolfo D. et al. Study of C282Y, H63D and S65C mutations in the HFE gene in Brazilian patients with iron overload. Rev. Bras. Hematol. Hemoter. [online]. 2007, vol.29, n.4, pp. 351-360. ISSN 1806-0870. http://dx.doi.org/10.1590/S1516-84842007000400007.
Hemochromatosis is one of the most frequent genetic diseases in humans and one of the most important causes of iron overload. The aims of this study were to determine the frequency of C282Y, H63D and S65C mutations of the HFE gene in Brazilian patients with iron overload, to verify the coexistence of chronic hemolytic anemia, hepatitis C and excessive alcohol consumption and to evaluate the influence of these variables on body iron deposits. Transferrin saturation, serum ferritin and C282Y, H63D and S65C HFE gene mutations (by PCR method) were determined in 50 patients with iron overload in the Hemocentro da Santa Casa de São Paulo between January 2000 and May 2004. The frequency of the HFE gene mutations in patients with iron overload was 76.0% (38/50). Transferrin saturation and serum ferritin were significantly higher in homozygous patients with the C282Y mutation confirming the correlation between the C282Y/C282Y genotype and a higher risk of iron overload. The coexistence of chronic hemolytic anemia, hepatitis C and excessive alcohol consumption are implicated in increased iron deposits and constitute additional risk factors in patients with HFE gene mutations for iron overload.
Palabras clave : Ferritin; iron overload; mutation; heterozygous; homozygous; hemochromatosis [genetic].