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Ferroportin disease due to the A77D mutation in Australia
  1. V N Subramaniam1,
  2. D F Wallace1,
  3. J L Dixon2,
  4. L M Fletcher3,
  5. D H Crawford3
  1. 1Membrane Transport Laboratory, Queensland Institute of Medical Research, Queensland, Australia
  2. 2Iron Metabolism Laboratory, Queensland Institute of Medical Research, Queensland, Australia
  3. 3Department of Gastroenterology and Hepatology, Princess Alexandra Hospital, and the Department of Medicine, University of Queensland Department, Brisbane, Queensland, Australia
  1. Correspondence to:
    Dr V N Subramaniam
    Membrane Transport Laboratory, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Brisbane, QLD 4006, Australia;

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Ferroportin disease or type 4 haemochromatosis is an autosomal dominant iron overload disorder caused by mutations in the iron exporter ferroportin.1,2 Numerous mutations in ferroportin (SLC40A1) have been identified (see review by Pietrangelo3). The A77D mutation of ferroportin has thus far only been reported in Italy.2 We report the first A77D mutation of ferroportin which resulted in hepatic iron overload in an Australian family. The study was approved by and performed in accordance with the ethical standards of the Queensland Institute of Medical Research Human Research Ethics Committee and the Helsinki Declaration of 1975, as revised in 1983. Informed and written consent was obtained from the patient and family members.

The subject, a 45 year old Caucasian male, presented with complaints of lethargy and malaise. He had no risk factors for viral hepatitis, consumed minimal alcohol (20 g/week), and was married with two …

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  • Conflict of interest: None declared.