Hemochromatosis

Hemochromatosis is an inherited disorder characterized by excessive absorption of dietary iron, leading to its accumulation in various organs, primarily the liver, heart, and pancreas. The condition results from a defect in the HFE gene, most commonly the C282Y and H63D mutations, which leads to dysregulation of iron metabolism. As the body lacks a natural mechanism for excreting excess iron, the mineral accumulates over time, potentially causing tissue damage and organ dysfunction through the production of harmful free radicals.

Clinically, hemochromatosis can be asymptomatic for many years until iron overload reaches a critical level. Symptoms may include joint pain, fatigue, weakness, diabetes mellitus (due to pancreatic damage), liver cirrhosis, cardiac arrhythmias, and skin discoloration (bronze diabetes). If not recognized and treated, the condition can lead to serious complications such as liver cancer, heart failure, and diabetes. Diagnosis is based on a combination of blood tests indicating elevated iron levels, genetic testing, and sometimes liver biopsy. Treatment primarily involves periodic phlebotomy, the removal of blood, to reduce iron stores to safe levels, and chelation therapy in cases where phlebotomy is contraindicated. Early detection and management are critical for preventing organ damage and improving prognosis.