Hereditary hemochromatosis. Detecting and correcting iron overload.
Hereditary hemochromatosis is a common genetic disorder. A large number of homozygous patients with early disease are asymptomatic, but with early diagnosis and treatment, their life expectancy is normal. The best screening test is determination of the percent saturation of transferrin or the transferrin index. Liver biopsy with measurement of hepatic iron concentration is required for definitive diagnosis. Once the diagnosis is confirmed, treatment by phlebotomy at regular intervals is straightforward.
Olynyk
J K
JK
University of Western Australia.
Bacon
B R
BR
D001815:Bloodletting; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008297:Male; D011379:Prognosis