The natural history of untreated HFE-related hemochromatosis.

Abstract:

:Hemochromatosis has generally been considered to be a genetic disease in which progressive iron accumulation over many years can lead to cirrhosis of the liver, hepatocellular carcinoma, diabetes, cardiomyopathy, and arthropathy. Iron depletion by phlebotomy has been the recommended therapy although a randomized trial of phlebotomy versus no treatment has never been reported. Since the discovery of the HFE gene in 1996, it has been possible to predict the risk of developing iron overload by a simple blood test to detect C282Y homozygotes of the HFE gene. The application of the hemochromatosis genetic test in large population studies often initiated to investigate other diseases has provided a fascinating glimpse into the natural history of untreated C282Y homozygotes followed for over 20 years without phlebotomy treatment. These observations are summarized in this review article which raises questions about the need for phlebotomy in all C282Y homozygous patients.

journal_name

Acta Haematol

journal_title

Acta haematologica

authors

Adams PC

doi

10.1159/000243797

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

134-9

issue

2-3

eissn

0001-5792

issn

1421-9662

pii

000243797

journal_volume

122

pub_type

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