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.