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Identification of ferroportin disease in the Indian subcontinent
  1. D F Wallace1,
  2. P Browett2,
  3. P Wong3,
  4. H Kua4,
  5. R Ameratunga5,
  6. V N Subramaniam6
  1. 1Membrane Transport Laboratory, The Queensland Institute of Medical Research, Brisbane, Queensland, Australia
  2. 2Department of Molecular Medicine and Pathology, University of Auckland, and LabPlus, Auckland City Hospital, Auckland, New Zealand
  3. 3Department of Gastroenterology, Auckland City Hospital, Auckland, New Zealand
  4. 4Diagnostic Medlab, Auckland, New Zealand
  5. 5LabPlus, Auckland City Hospital, Auckland, New Zealand
  6. 6Membrane Transport Laboratory, the Queensland Institute of Medical Research, Brisbane, Queensland, Australia
  1. Correspondence to:
    Dr V N Subramaniam
    Membrane Transport Laboratory, The Queensland Institute of Medical Research, 300 Herston Rd, Herston, Brisbane, QLD 4006, Australia; nathanSqimr.edu.au

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Haemochromatosis is a common inherited disorder of iron metabolism, characterised by excessive iron absorption and deposition in tissues. The majority of cases are associated with mutations in the HFE gene and inherited in an autosomal recessive manner.1 Autosomal dominant forms of haemochromatosis have been reported, mainly associated with mutations in the ferroportin 1 gene.2 This syndrome, termed type 4 haemochromatosis or more recently ferroportin disease,3 is usually characterised by an early increase in serum ferritin with normal transferrin saturation. Iron accumulation is most prominent in Kupffer cells and other macrophages, in addition to hepatocytes. Some patients do not tolerate venesection therapy well and can develop anaemia. Hereditary iron overload disorders appear to be uncommon in Asia. Secondary iron overload due to beta thalassaemia is relatively common in the Indian subcontinent. However, primary iron overload disorders …

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