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.
Highlights
HFE hemochromatosis is a genetic disease related to mutation in HFE gene [1]
We report a case of compound heterozygous C282Y/H63D discovered by family screening for elevated serum ferritin
We report a rare case in our settings of compound heterozygosity C282Y/H63D revealed by family screening treated by phlebotomy
Summary
HFE hemochromatosis is a genetic disease related to mutation in HFE gene [1]. Its prevalence in Morocco is unknown and is believed to be rare. In HFE related iron overload, 2 major genotypes have been described: C282Y homozygosity and C282Y/ H63D compound heterozygosity. Plasma iron overload consequent to unregulated intestinal absorption and erythrophagocytosis iron release, lead to high transferrin-iron saturation [TS] and generate a non transferrin bound iron taken by organs, mostly liver, pancreas and heart. Iron deposition in these organs leads in the ultimate stage to organ dysfunction and failure (Figure 1) [7] [8]). Other rare HFE mutations have been described associated with those frequent genotypes, explaining unusual cases of iron overload: type 2 HJV and HAMP, type 3 TFR2, type 4 ferroportin [11] (Table 1). We report a rare case in our settings of compound heterozygosity C282Y/H63D revealed by family screening treated by phlebotomy
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