Fernández DND, Forrellat BM, Valledor TR, Lavaut SK, Cervera GI

Language: Spanish
References: 22
Page: 59-67
PDF size: 180.80 Kb.

ABSTRACT

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.

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