From the Guidelines
Hemochromatosis is a genetic disorder that requires early identification and treatment with phlebotomy to prevent serious complications, whereas hemosiderosis is an acquired condition that may be managed by addressing the underlying cause and using iron chelation therapy. Hemochromatosis and hemosiderosis are both iron overload disorders but differ significantly in their causes and implications. Hemochromatosis is primarily a genetic disorder where mutations in genes (most commonly HFE) cause increased intestinal iron absorption, leading to systemic iron accumulation in organs like the liver, heart, and pancreas [ 1 ]. This progressive condition can cause serious complications including cirrhosis, diabetes, heart failure, and arthritis if left untreated.
Key Differences
- Hemochromatosis is a primary disorder of iron metabolism with genetic origins
- Hemosiderosis is secondary to other conditions causing iron overload, such as multiple blood transfusions, chronic hemolytic anemias, or excessive dietary iron intake
- Treatment for hemochromatosis involves regular phlebotomy to reduce iron levels, with targets of ferritin <50 µg/L during the induction phase and <100 µg/L during the maintenance phase [ 1 ]
- Treatment for hemosiderosis focuses on addressing the underlying cause and may include iron chelation therapy with medications like deferoxamine, deferasirox, or deferiprone to remove excess iron [ 1 ]
Management
- Early diagnosis and treatment of hemochromatosis can prevent cirrhosis, hepatocellular carcinoma, diabetes, arthropathy, and other complications [ 1 ]
- Patients with advanced fibrosis should be included in a screening programme for hepatocellular carcinoma [ 1 ]
- Phlebotomy is the primary treatment for hemochromatosis, with the goal of reducing iron levels to prevent organ damage [ 1 ]
- Iron chelation therapy may be used to manage hemosiderosis, particularly in cases where phlebotomy is not effective or feasible [ 1 ]
From the Research
Hemochromatosis vs Hemosiderosis
- Hemochromatosis is a genetic disorder characterized by iron overload, which can lead to end-organ damage and death if untreated 2, 3, 4.
- Hemosiderosis, on the other hand, refers to the accumulation of iron in tissues, which can be caused by various factors, including hemolysis, multiple blood transfusions, and chronic liver disease 5, 4.
- The diagnosis of hemochromatosis involves genetic testing for HFE mutations, as well as measurements of serum ferritin and transferrin saturation 5, 2, 3.
- Hemosiderosis can be diagnosed through imaging studies, such as magnetic resonance imaging, and liver biopsy 5, 4.
- Treatment for hemochromatosis typically involves phlebotomy to remove excess iron stores, while treatment for hemosiderosis depends on the underlying cause 2, 3, 4.
- It is essential to differentiate between hemochromatosis and hemosiderosis, as the treatment approaches differ significantly 5, 2, 3, 4.
- Secondary iron overload, which can cause hemosiderosis, can result from various factors, including frequent blood transfusions, exogenous iron intake, and certain hematological diseases 4.