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Hemochromatosis--Genetic Prevalence and Penetrance

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00006312
Recruitment Status : Completed
First Posted : September 29, 2000
Last Update Posted : January 15, 2016
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
University of Rochester

Brief Summary:
To examine the cost effectiveness of hereditary hemochromatosis (HH) screening in primary care.

Condition or disease
Blood Disease Hemochromatosis

Detailed Description:


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.


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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Study Type : Observational
Study Start Date : July 1999
Study Completion Date : May 2003

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Hemochromatosis

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00006312

Sponsors and Collaborators
University of Rochester
National Heart, Lung, and Blood Institute (NHLBI)
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OverallOfficial: Pradyumna Phatak University of Rochester

Layout table for additonal information Identifier: NCT00006312     History of Changes
Other Study ID Numbers: 920
R01HL061428 ( U.S. NIH Grant/Contract )
First Posted: September 29, 2000    Key Record Dates
Last Update Posted: January 15, 2016
Last Verified: January 2016
Additional relevant MeSH terms:
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Hematologic Diseases
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Iron Overload
Iron Metabolism Disorders
Metabolic Diseases