Recent advances in hemochromatosis: a 2015 update A summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia

• Published in: Hepatology international Vol. 9; no. 2; pp. 174 - 182
• Main Authors: Ekanayake, Dilum, Roddick, Clinton, Powell, Lawrie W.
• Format: Journal Article
• Language: English
• Published: India Springer India 01.04.2015; Springer Nature B.V
• Subjects: Australia; Cation Transport Proteins - genetics; Colorectal Surgery; Congresses as Topic; Genetic Testing; Hemochromatosis - diagnosis; Hemochromatosis - genetics; Hemochromatosis - metabolism; Hemochromatosis - therapy; Hemochromatosis Protein; Hepatology; Histocompatibility Antigens Class I - genetics; Humans; Iron - metabolism; Medicine; Medicine & Public Health; Membrane Proteins - genetics; Phlebotomy; Receptors, Transferrin - genetics; Review Article; Surgery; Iron overload; Genetics of iron storage; Hemochromatosis; Iron storage disease
• ISSN: 1936-0533; 1936-0541
• DOI: 10.1007/s12072-015-9608-2

This review focuses on iron metabolism, the genetics of hemochromatosis, current treatment protocols and various screening methods. Even though the most common form of hereditary hemochromatosis, C282Y gene mutations in the HFE gene, has been extensively studied, novel mutations in both HFE and non - HFE genes have been implicated in this disease. These have important implications for the Asia-Pacific region. In overload, deposition of iron in various body tissues leads to toxic damage. Patients commonly present with non-specific symptoms of malaise and lethargy. Biochemical, imaging and genetic testing can be carried out to confirm diagnosis. Venesection forms the mainstay of treatment and at present cascade screening of affected families is recommended over population-level screening.