Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases?

Abstract:

:Genetic testing for the C282Y mutation of the HFE gene has been a major advance in the diagnosis of hereditary hemochromatosis. In most studies, more than 90% of typical hemochromatosis patients are homozygous for the C282Y mutation. Large-scale population screening studies in predominantly Caucasian populations have demonstrated a high prevalence of C282Y homozygotes of approximately 1 in 300. Despite this high prevalence by genetic testing, the clinical diagnosis of hemochromatosis and mortality from the disease are much less common. One possibility is the presence of many undiagnosed cases with nonspecific symptoms, and deaths occurring that are attributed to liver disease, diabetes, and heart disease without the recognition of iron overload secondary to hemochromatosis. Another possibility is a high prevalence of nonexpressing homozygotes. In this review, the available data on nonexpressing C282Y homozygotes is collected including information on pathogenesis, environmental interactions, and implications for population screening using genetic testing.

journal_name

Mol Genet Metab

authors

Adams PC

doi

10.1006/mgme.2000.3037

subject

Has Abstract

pub_date

2000-09-01 00:00:00

pages

81-6

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(00)93037-3

journal_volume

71

pub_type

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