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Hereditary haemochromatosis: detection and management
Author(s) -
Vautier Guy,
Murray Michael,
Olynyk John K
Publication year - 2001
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.2001.tb143650.x
Subject(s) - phlebotomy , medicine , transferrin saturation , liver biopsy , hemochromatosis , cirrhosis , genetic testing , hereditary hemochromatosis , ferritin , pediatrics , biopsy , serum ferritin
• Hereditary haemochromatosis is common, affecting one in 200 Australians of Anglo‐Celtic descent; it results in iron overload affecting many organs, including the liver, heart, endocrine and musculoskeletal system. • Diagnosis requires a high index of suspicion, as presenting symptoms and signs may be non‐specific. • Once suspected, hereditary haemochromatosis can be readily diagnosed by measurement of serum transferrin saturation and ferritin level, followed by genetic assessment. • Homozygosity for the C282Y mutation in the HFE gene accounts for most cases in people of Anglo‐Celtic descent in Australia; a genetic test for this mutation is widely available. • Liver biopsy is advocated only in selected individuals at risk of cirrhosis or with an unclear diagnosis. • Therapeutic phlebotomy remains the treatment and, if instituted early, will prevent many of the organ‐specific complications.