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Blood, 1 December 2000, Vol. 96, No. 12, pp. 3707-3711
CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS
Asymptomatic hemochromatosis subjects: genotypic and
phenotypic profiles
Ronald L. Sham,
Richard F. Raubertas,
Caroline Braggins,
Joseph Cappuccio,
Margaret Gallagher, and
Pradyumna D. Phatak
From the Department of Medicine, Rochester General
Hospital, the Mary M. Gooley Hemophilia Center Inc, and The University
of Rochester School of Medicine and Dentistry, Rochester, NY; and The
Centers for Disease Control and Prevention, Atlanta GA.
Screening for hereditary hemochromatosis (HHC) by means of
transferrin saturation (TS) levels has been advocated and will identify
many patients who are asymptomatic. The purposes of this study were (1)
to determine HFE genotypes among asymptomatic HHC patients and
correlate this profile with the degree of iron overload and (2) to
evaluate the relationship between mobilized iron (mob Fe), age, serum
ferritin (SF), and quantitative hepatic iron (QHI) in this population.
One hundred twenty-three asymptomatic HHC patients were evaluated;
all had quantitative phlebotomy to determine mob Fe and
genotyping for C282Y and H63D mutations. Liver biopsies with QHI
determinations were performed on 72 of the 123 patients. Of the entire
group, 60% were homozygous for C282Y, and 13% were compound
heterozygotes (C282Y/H63D). Among asymptomatic patients, the prevalence
of homozygous C282Y is lower compared with previous studies that
include clinically affected patients. Of those patients with more than
4 g mob Fe, 77% were homozygous C282Y. Asymptomatic patients with
lower iron burdens frequently had genotypes other than homozygous
C282Y. There was no correlation between age and mob Fe in these
patients; however, there was a correlation between mob Fe and both SF
(r = 0.68) and QHI (r = 0.75). In conclusion, asymptomatic
patients with moderate iron overload had a different genotypic profile
than was seen in advanced iron overload. The significance of
identifying patients with modest degrees of iron loading, who may not
be homozygous for C282Y, must be addressed if routine TS screening is
to be implemented.
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