Resumen

FERNANDEZ-DELGADO, Norma D et al. Hereditary hemochromatosis type I: apropos of four confirmed cases. Rev Cubana Hematol Inmunol Hemoter [online]. 2014, vol.30, n.1, pp.59-67. ISSN 0864-0289.

Hereditary hemochromatosis is a genetic disorder. Detailed studies on its physiopathology and diagnosis have been carried out over the last years. The syndromes are characterized by iron overload and several subtypes are distinguished according to the existing mutation. Among them, the mutations in HFE gene or hereditary hemochromatosis type I is the most common. This disease has a great morbidity and mortality associated to mineral overload. For the first time in Cuba, we report four patients with confirmed mutations in HFE genes.

Palabras clave : hereditary hemochromatosis; HFE; C282Y mutation; iron overload.

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