hfe gene mutations, iron overload and cryptogenic liver cirrhosis

HFE Gene Mutations, Iron Overload and Cryptogenic Liver Cirrhosis

The diagnosis of cryptogenic cirrhosis is an exclusion diagnosis. It has become far less frequent over the last decades , but it still effects a significant number of patients. Many previously unknown chronic liver disease entities were described in the second half of the last century, including chronic viral hepatitis B, C and D, along with refined criteria for diagnosing autoimmune hepatitis ...

HFE Gene Mutations in Cryptogenic Cirrhosis Patients

In Western countries, HFE-linked hereditary hemo-chromatosis (HH) is considered to be the most common cause of iron overload. The HFE gene, first identified in 1996, is located on the short arm of chromosome 6. The majority of patients with phenotypic HH are homozy-gous for the C282Y mutation, a major mutation of the HFE gene, whereas compound heterozygosity (C282Y/ H63D) is found in patients w...

iron overload and hfe mutations: are they relevant in cryptogenic cirrhosis?

hfe gene mutations in cryptogenic cirrhosis patients

Iron Overload and HFE Mutations: Are They Relevant in Cryptogenic Cirrhosis?

Hereditary hemochromatosis (HH) is the most frequent genetic disease in populations of European origin. The HH gene was cloned by Feder et al. in 1996, and 2 major mutations were discovered: C282Y and H63D. Geographical differences with mutation frequencies have been published (1, 2) with a decreasing gradient of occurrence in Europe from north to south. HH leads to liver iron overload and rais...

Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population.

AIM To find out the association of common HFE mutations (viz., C282Y and H63D) with primary iron overload (PIL) in liver cirrhosis (CLD) patients of Indian origin. METHODS Polymerase chain reaction-restriction fragment length polymorphism method was used for screening C282Y and H63D mutation in 496 CLD patients (hepatitis B virus associated cirrhosis (HBVc) = 74, hepatitis C virus associated ...