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http://dx.doi.org/10.1016/j.cld.2014.09.011

has been cited by the following article:

• TITLE: Compound Heterozygous C282Y/H63D Mutation in Hemochromatosis: A Case Report

  AUTHORS: Zazour Abdelkrim, Wafaa Khannoussi, Amine El Mekkaoui, Ghizlane Kharrasse, Zahi Ismaili

  KEYWORDS: Iron Overload, Compound Heterozygoty, Phlebotomy

  JOURNAL NAME: Open Journal of Clinical Diagnostics, Vol.6 No.3, September 21, 2016

  ABSTRACT: Hereditary hemochromatosis is a condition characterized by iron overload, which is both treatable and preventable. It’s mainly related to hepcidin deficiency related to mutations in genes involved in hepcidin regulation. Iron overload increases the risk of disease such as liver cirrhosis, heart disease and diabetes. Two HFE genotypes have been commonly described in cases of iron overload, C282Y homozygosity and C282Y/H63D compound heterozygoty. The diagnosis of this rare disease now can be explored by biological and imaging tools. We report a case of compound heterozygous C282Y/H63D discovered by family screening for elevated serum ferritin.