Hemochromatosis--Genetic Prevalence and Penetrance

NCT00006312 | Completed

• 2 other identifiers: 920R01HL061428
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

Brief Summary

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

Conditions

Blood Disease; Hemochromatosis

Eligibility Criteria

• Age: Up to 100 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

No eligibility criteria

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• University of Rochester: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Related Publications (2)

• Sham RL, Raubertas RF, Braggins C, Cappuccio J, Gallagher M, Phatak PD. Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles. Blood. 2000 Dec 1;96(12):3707-11.

  PMID: 11090050 BACKGROUND

• Phatak PD, Ryan DH, Cappuccio J, Oakes D, Braggins C, Provenzano K, Eberly S, Sham RL. Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis. 2002 Jul-Aug;29(1):41-7. doi: 10.1006/bcmd.2002.0536.

  PMID: 12482402 BACKGROUND

MeSH Terms

Conditions

Hematologic Diseases; Hemochromatosis

Condition Hierarchy (Ancestors)

Hemic and Lymphatic Diseases; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Iron Overload; Iron Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Pradyumna Phatak

  University of Rochester

Study Design

• Study Type: observational
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: September 28, 2000
• First Posted: September 29, 2000
• Study Start: July 1, 1999
• Study Completion: May 1, 2003
• Last Updated: January 15, 2016

Record last verified: 2016-01