HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Subacute hepatic necrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267795
Disease: Subacute hepatic necrosis
Subacute hepatic necrosis 		0.010 GeneticVariation disease BEFREE Further evaluation revealed that the patient was homozygous for the HFE H63D gene mutation, associated with hereditary hemochromatosis.Both Busulfan and iron overload related to HFE H63D homozygosity can cause oxidative stress resulting in cellular injury, and the cumulative effects of these risk factors are possibly responsible for the severe hepatocellular injury in this case, making our patient the first-known case of subacute hepatic necrosis related to busulfan administration. 26497867 2015