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Hemochromatosis is a disorder characterized by excessive accumulation of iron in the body. This condition leads to damage of various organs, particularly the liver, heart, pancreas, and endocrine system.
Types:
Hereditary hemochromatosis (Type 1): Caused by genetic mutations (most commonly in the HFE gene), leading to increased intestinal absorption of dietary iron.
Secondary (acquired) hemochromatosis: Often develops as a consequence of multiple blood transfusions (e.g., in patients with thalassemia, sickle cell anemia, or other chronic anemias).
Main symptoms: Chronic fatigue, weakness, darkening of the skin (“bronze diabetes”), hepatomegaly, liver fibrosis or cirrhosis, heart failure or arrhythmias, diabetes mellitus (due to pancreatic damage), hormonal disorders, joint pain, and arthritis.
Diagnostic methods:
Serum ferritin and transferrin saturation (TSAT): Primary screening tests.
Genetic testing: To identify HFE mutations.
Liver elastography: To assess the degree of hepatic damage.
MRI (T2): To evaluate iron concentration in tissues.
