ironoverload

Iron overload refers to the accumulation of excess iron in the body, exceeding physiological needs and storage capacity. It commonly results from increased intestinal iron absorption in hereditary conditions or from iron loading due to repeated blood transfusions. Other contributing factors include chronic liver disease and less commonly high dietary iron intake or certain metabolic disorders.

Primary iron overload is most often caused by hereditary hemochromatosis, usually due to mutations in the HFE gene that disrupt hepcidin regulation and increase iron absorption. Secondary iron overload occurs with ongoing transfusion therapy for disorders such as beta-thalassemia major, myelodysplastic syndromes, or aplastic anemia, as well as in some chronic liver diseases.

The excess iron deposits in organs, especially the liver, heart, pancreas, and endocrine glands, where it can generate reactive oxygen species and cause tissue damage. Symptoms are nonspecific early on, including fatigue and joint pain; later, liver enlargement or cirrhosis, heart rhythm problems, diabetes, and skin hyperpigmentation can appear. Laboratory findings typically show elevated ferritin and high transferrin saturation. Genetic testing helps identify hereditary forms; MRI-based liver iron concentration assessment can quantify iron load.

Management aims to reduce iron burden and prevent organ damage. The main treatment for many patients is therapeutic phlebotomy to remove blood and gradually lower iron stores. When phlebotomy is unsuitable, iron chelation therapy with agents such as deferoxamine, deferasirox, or deferiprone may be used. Management also includes treating comorbidities, avoiding iron supplements, and limiting alcohol. Early detection improves prognosis, whereas advanced organ damage can be difficult to reverse.