A 52-year-old man of Indian origin presents with progressive fatigue, joint pain in the hands, and erectile dysfunction for the past 2 years. On examination, he has a bronze-grey skin discoloration and hepatomegaly. Laboratory investigations reveal: serum iron 280 µg/dL (normal 60–170), transferrin saturation 92% (normal <45%), ferritin 1200 ng/mL (normal <300), and elevated transaminases. Liver biopsy shows cirrhosis with iron deposition predominantly in hepatocytes. What is the most likely diagnosis?
In hereditary hemochromatosis, iron deposition in hepatocytes leads to cirrhosis through which primary mechanism?
Which gene mutation is responsible for the majority of cases of hereditary hemochromatosis?
A 48-year-old man is found to have elevated serum ferritin (850 ng/mL) and transferrin saturation of 68% on routine screening. He is asymptomatic with normal liver function tests and no hepatomegaly on examination. Genetic testing reveals HFE C282Y homozygosity. What is the most appropriate next step in management?
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