aetiology of iron overload

Last reviewed 10/2023

causes of iron overload

Iron overload syndromes can be divided into three groups

  • hereditary Hemochromatosis

    • HFE-related
      • C282Y/C282Y
      • C282Y/H63D
      • other HFE mutations

    • non–HFE-related
      • hemojuvelin (HJV)
      • transferrin receptor-2 (TfR2)
      • ferroportin (SLC40A1)
      • hepcidin (HAMP)
      • African iron overload

  • secondary Iron Overload

    • iron-loading anemias
      • thalassemia major
      • sideroblastic
      • chronic hemolytic anaemia
      • aplastic anemia
      • pyruvate kinase deficiency
      • pyridoxine-responsive anemia

    • parenteral iron overload
      • red blood cell transfusions
        • eg
          • parenteral iron overload in blood transfusions:
          • thalassamia major
          • sickle cell disease
          • myelodysplasia

      • iron–dextran injections
      • long-term hemodialysis

    • excess dietary iron:
      • Bantu haemochromatosis

    • chronic liver disease
      • porphyria cutanea tarda
      • hepatitis C
      • hepatitis B
      • alcoholic liver disease
      • nonalcoholic fatty liver disease
      • following portocaval shunt

    • dysmetabolic iron overload syndrome

  • miscellaneous
    • neonatal iron overload
    • aceruloplasminemia
    • congenital atransferrinemia

A high alcohol intake is associated with more rapid development of haemochromatosis.

Reference: