Statistical Basis for Hemochromatosis Screening

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: May 25, 2000
Last updated: February 17, 2016
Last verified: March 2004
To determine optimal values for transferrin saturation for use in population screening for hereditary hemochromatosis.

Blood Disease

Study Type: Observational

Resource links provided by NLM:

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Study Start Date: July 1997
Study Completion Date: June 2000
Detailed Description:


Once considered to be a rare disorder, hemochromatosis is now recognized to be one of the most common autosomal recessive disorders in white populations. Substantial morbidity and mortality may result from untreated hemochromatosis; thus, early detection and treatment are essential. The Centers for Disease Control and Prevention and the College of American Pathologists now recommend regular screening for hereditary hemochromatosis. Transferrin saturation is regarded as the best single screening test for the detection of individuals at risk for the disorder.


Statistical mixture modeling was used to develop guidelines for hemochromatosis screening regimes and to determine the frequency of the gene for hemochromatosis. The research was designed to provide a statistical foundation for the analysis of population transferrin saturations to assist in development of optimal screening regimens for hemochromatosis. To determine potential screening thresholds, probability methods were applied to data from the third National Health and Nutrition Examination Survey (NHANES III), a cross-sectional probability sample weighted to represent the U.S. population. Statistical mixture modeling was used to determine potential transferrin saturation screening thresholds to identify individuals for repeat testing and possible further evaluation. The actual sensitivity and specificity of these screening thresholds was then assessed using data from a separate demonstration project, "Cost effective Hemochromatosis Survey in Primary Care", designed to identify individuals with hemochromatosis. In addition, the gene frequency for hemochromatosis for whites and ethnic subgroups was also determined by analysis of transferrin saturation data from NHANES III.

The study has two specific aims, as follow: (1) to develop guidelines for the use of transferrin saturation and related tests in detection of individuals at risk for hemochromatosis, and (2) to determine the frequency of the gene for hemochromatosis in the United States by statistical mixture modeling of population transferrin saturation data from NHANES III. Providing the statistical foundation for the analysis of transferrin saturations should facilitate development of optimal, cost-effective screening regimens for identification of individuals requiring further evaluation for hemochromatosis.

The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.


Ages Eligible for Study:   up to 100 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
No eligibility criteria
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Please refer to this study by its identifier: NCT00005559

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Christine Mc Laren Moorhead State University
  More Information

Publications: Identifier: NCT00005559     History of Changes
Other Study ID Numbers: 5104  R15HL058203 
Study First Received: May 25, 2000
Last Updated: February 17, 2016
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Hematologic Diseases
Genetic Diseases, Inborn
Iron Metabolism Disorders
Iron Overload
Metabolic Diseases
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors processed this record on May 26, 2016