Blood Disease Clinical Trial
To examine the cost effectiveness of hereditary hemochromatosis (HH) screening in primary care.
BACKGROUND:
Hereditary hemochromatosis (HH) is the most common inherited disorder among Caucasians with
an estimated frequency as high as 8 per 1000. Affected individuals absorb excessive amounts
of dietary iron and develop progressive accumulation of tissue iron stores with consequent
organ dysfunction including hepatic cirrhosis, diabetes mellitus, congestive heart failure,
arthropathy and impotence. Early diagnosis and institution of phlebotomy treatments will
prevent disease manifestations and normalize life expectancy. In 1996, HFE, the gene for HHC
was mapped on the short arm of chromosome 6 (6p21.3). HH is therefore a natural target for
the development of a routine screening strategy.
DESIGN NARRATIVE:
The investigators have demonstrated the favorable cost-effectiveness ratio of adopting a
screening strategy for HH and have screened 16,031 primary care patients using serum
transferrin saturation (TS) levels to confirm the prevalence of undiagnosed HH in this
setting and to demonstrate the feasibility of screening. The recent description of HFE gene
mutations in individuals with HH has made genetic testing for HH possible and may increase
the attractiveness of general screening. However, several important questions about genetic
prevalence and penetrance remain to be addressed before such a recommendation can be made.
The large screened sample provides a unique opportunity to address several of these
important issues. First, they will obtain population-based estimates of the prevalence of
HFE gene mutations. Second, they will determine the sensitivity of serum TS testing for
detecting these mutations. Third, the comparison of genotype and phenotype will allow them
to draw useful inferences about disease penetrance. The results will enable them to propose
an optimal screening strategy for HH and to determine the place of genetic testing in the
diagnostic algorithm. This strategy may vary depending on age, sex and race. The answers to
these questions will enable them to determine with greater confidence the relative
effectiveness of a screening strategy for HH and will clarify for primary care practitioners
which of their patients should be screened for this disorder. These questions have recently
been identified as a priority by the Centers for Disease Control and Prevention and by the
National Heart, Lung, and Blood Institute.
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