Clinical Trial: Hemochromatosis--Genetic Prevalence and Penetrance

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title:

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

Detailed Summary:

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 sc
Sponsor: University of Rochester

Current Primary Outcome:

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Rochester

Dates:
Date Received: September 28, 2000
Date Started: July 1999
Date Completion: May 2003
Last Updated: January 14, 2016
Last Verified: January 2016