Statistical Basis for Hemochromatosis Screening

NCT ID: NCT00005559

Last Updated: 2016-02-18

Basic Information

• Recruitment Status: COMPLETED
• Study Classification: OBSERVATIONAL
• Study Start Date: 1997-07-31
• Study Completion Date: 2000-06-30

Brief Summary

To determine optimal values for transferrin saturation for use in population screening for hereditary hemochromatosis.

Detailed Description

BACKGROUND:

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.

DESIGN NARRATIVE:

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.

Conditions

Blood Disease; Hemochromatosis

Eligibility Criteria

Inclusion Criteria

No eligibility criteria

• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: lead

Principal Investigators

Christine Mc Laren

Role:

Moorhead State University

References

Adams PC, Kertesz AE, McLaren CE, Barr R, Bamford A, Chakrabarti S. Population screening for hemochromatosis: a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors. Hepatology. 2000 May;31(5):1160-4. doi: 10.1053/he.2000.6984.

Reference Type: BACKGROUND

PMID: 10796893 (View on PubMed)

McLaren CE, Li KT, Gordeuk VR, Hasselblad V, McLaren GD. Relationship between transferrin saturation and iron stores in the African American and US Caucasian populations: analysis of data from the third National Health and Nutrition Examination Survey. Blood. 2001 Oct 15;98(8):2345-51. doi: 10.1182/blood.v98.8.2345.

Reference Type: BACKGROUND

PMID: 11588029 (View on PubMed)

Other Identifiers

R15HL058203

Identifier Type: NIH

Identifier Source: secondary_id

View Link

5104

Identifier Type: -

Identifier Source: org_study_id