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Aetiology of iron overload

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Causes of iron overload

Iron overload syndromes can be divided into three groups:

  • Hereditary haemochromatosis

    • 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 anaemias
      • thalassemia major
      • sideroblastic
      • chronic haemolytic anaemia
      • aplastic anaemia
      • pyruvate kinase deficiency
      • pyridoxine-responsive anaemia

    • parenteral iron overload
      • red blood cell transfusions e.g.
        • parenteral iron overload in blood transfusions:
        • thalassaemia major
        • sickle cell disease
        • myelodysplasia

      • iron–dextran injections
      • long-term haemodialysis

    • excess dietary iron:
      • Bantu haemochromatosis

    • chronic liver disease
      • porphyria cutanea tarda
      • hepatitis C
      • hepatitis B
      • alcoholic liver disease
      • non-alcoholic 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.


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