In simple words: Hemochromatosis is a condition where your body absorbs too much iron from the food you eat. This extra iron builds up in your organs, like your liver and heart, and can cause problems over time.

Hemochromatosis, also known as iron overload, is a disorder characterized by excessive absorption of iron from the diet. The excess iron accumulates in various organs and tissues, potentially causing damage to the liver, heart, pancreas, pituitary gland, and joints.

Example 1: A 50-year-old male of Northern European descent presents with fatigue, joint pain, and abdominal discomfort. Blood tests reveal elevated serum iron, ferritin, and transferrin saturation. Genetic testing confirms the diagnosis of hereditary hemochromatosis (E83.11)., A 35-year-old female with a history of multiple blood transfusions for sickle cell anemia exhibits signs of liver damage. Further investigation reveals iron overload, and she is diagnosed with secondary hemochromatosis (E83.11)., A young adult undergoes genetic testing and is found to have two copies of the C282Y mutation in the HFE gene. Although currently asymptomatic, they are diagnosed with hereditary hemochromatosis (E83.11) and advised to undergo regular monitoring and phlebotomy to prevent future complications.

Diagnosis of hemochromatosis requires documentation of symptoms, physical findings, blood test results (serum iron, ferritin, transferrin saturation), genetic testing results, and imaging studies (if performed). Medical necessity for treatment (phlebotomy or chelation therapy) should be documented based on the severity of iron overload and organ damage.