Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism and should be distinguished from the other syndromes of iron overload. Many patients with HH hove abnormal serum iron values before the development of any significant symptoms or c/inical findings. Our understanding of several aspects of HH has greatly expanded over the last few years with the identification and cloning of the HH gene, genetic test for the C282Y and H63D mutations and understanding of the physiology and pathophysiology of the HFE protein.
lt is anticipated that these advances will eventually lead to population screening with earlier and more accurate diagnosis of HH, and prevention of cirrhosis and other iron-induced toxicity in HH patients by timely treatment with phlebotomy.
Keywords:
Hemocromatosis/diagnóstico, Hemocromatosis/fisiopatología, Hemocromatosis/genética, Hemocromatosis/terapia, Sobrecarga de Hierro, Ferritinas
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How to Cite
Quera P., R. ., Poniachik T., J. ., & Mancilla A., C. . (2002). Hemocromatosis, una enfermedad por depósito. Revista Hospital Clínico Universidad De Chile, 13(3), pp. 192–200. https://doi.org/10.5354/2735-7996.2002.79547
