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 OJCD  Vol.6 No.3 , September 2016
Compound Heterozygous C282Y/H63D Mutation in Hemochromatosis: A Case Report
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.
Cite this paper: Abdelkrim, Z. , Khannoussi, W. , El Mekkaoui, A. , Kharrasse, G. and Ismaili, Z. (2016) Compound Heterozygous C282Y/H63D Mutation in Hemochromatosis: A Case Report. Open Journal of Clinical Diagnostics, 6, 30-35. doi: 10.4236/ojcd.2016.63006.
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