H63D Homozygous Mutation: An Unusual Cause of Deranged Liver Function Test in an Elderly Patient

Hereditary hemochromatosis is an autosomal recessive disorder characterized by dysregulated iron homeostasis resulting in body iron overload. Hemochromatosis leads to excessive iron deposition in the parenchymal cells of different body organs, resulting in the compromise of their normal functioning in genetically predisposed patients. It presents in genetically predisposed male patients aged between 40 and 70 years. Various mutations have been described in hemochromatosis, C282Y is the most prevalent and is commonly associated with iron overload. Other mutations such as H63D and S65C rarely lead to iron overload in patients. We present an unusual case of an 84-year-old male who was referred for comprehensive evaluation. He was found to have mildly elevated liver function tests (LFTs). Further workup revealed raised ferritin levels, and on a detailed investigation, it was found to be homozygous for the H63D mutation for hemochromatosis. The patient was seen by hematology and was treated with therapeutic phlebotomy, which led to the normalization of the LFTs and improvement in ferritin levels and clinical symptoms.