IRON OVERLOAD AND HFE MUTATIONS: ARE THEY RELEVANT IN CRYPTOGENIC CIRRHOSIS?

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CASTIELLA AGUSTIN

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Journal Paper

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Journal: Hepatitis Monthly Year:2012 | Volume:12 | Issue:2 Page(s): 126-127

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Title

IRON OVERLOAD AND HFE MUTATIONS: ARE THEY RELEVANT IN CRYPTOGENIC CIRRHOSIS?

Author(s)

CASTIELLA AGUSTIN | Issue Writer Certificate

Keywords

IRON OVERLOOD

GENETIC DISEASES

GENES

Abstract

Hereditary hemochromatosis (HH) is the most frequent genetic disease in populations of European origin.The HH gene was cloned by Federet al. in 1996, and 2 major mutations were discovered: C282Y and H63D. Geographical differences with mutation frequencies have been published with a decreasing gradient of occurrence in Europe from north to south. HH leads to liver iron overload and raised liver iron concentration (LIC) is associated with liver fibrosis. When the LIC reaches 60μmol/g, or approximately twice the upper limit of the normal range (36mmol/g), activation of stellate cells appears. These cells are principally responsible for the beginning of liver fibrosis and fibrosis.

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APA: Copy

CASTIELLA, AGUSTIN. (2012). IRON OVERLOAD AND HFE MUTATIONS: ARE THEY RELEVANT IN CRYPTOGENIC CIRRHOSIS?. HEPATITIS MONTHLY, 12(2), 126-127. SID. https://sid.ir/paper/306556/en

Vancouver: Copy

CASTIELLA AGUSTIN. IRON OVERLOAD AND HFE MUTATIONS: ARE THEY RELEVANT IN CRYPTOGENIC CIRRHOSIS?. HEPATITIS MONTHLY[Internet]. 2012;12(2):126-127. Available from: https://sid.ir/paper/306556/en

IEEE: Copy

AGUSTIN CASTIELLA, “IRON OVERLOAD AND HFE MUTATIONS: ARE THEY RELEVANT IN CRYPTOGENIC CIRRHOSIS?,” HEPATITIS MONTHLY, vol. 12, no. 2, pp. 126–127, 2012, [Online]. Available: https://sid.ir/paper/306556/en

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