Iron Overload in African Americans

NCT00001455 | Completed

• 2 other identifiers: 95014295-CH-0142
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

Iron overload (hemochromatosis) is a condition which causes the intestines to take too much iron into the body from food or pills. The extra iron can build up in the liver, heart, joints, pancreas, sex organs, and other organs. Patients with iron overload can feel well initially, but the iron will eventually damage organs and may lead to an early death. The condition is believed to be passed down from generation to generation. Many studies have been conducted on the condition as it affects Caucasian Americans, few have addressed the condition in African Americans. Researchers believe it is important to find out as much as possible about the iron overload in African Americans. The goal of this study is to determine the pattern of inheritance of primary iron overload in African American families and to identify the genetic defect causing the condition. The study will use various tests from simple blood testing (transferritin saturation and serum ferritin levels) to complex genetic tests (segregation analysis and polymerase chain reaction \[PCR\]). The tests will help researchers deterimine iron levels in the blood, presence of antigens that may help trace inheritance, and detect changes in genes that are known to cause iron overload in Caucasians. The study may not directly benefit the patients participating in it. However, this study may lead to improved methods to diagnose iron overload in the African American population as a whole.

Conditions

Hemochromatosis; Iron Overload

Keywords

Genetics; Hemochromatosis; Iron Metabolism; Iron Storage Disorder; Pedigree; Iron Overload

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

Index subjects as well as male and female first and second degree family members, greater than 5 years of age, of index subjects with iron overload. In some cases, more distant family members will also be studied. No patients less than or equal to 5 years old.

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

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institute of Child Health and Human Development (NICHD)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology. 1986 Jan-Feb;6(1):24-9. doi: 10.1002/hep.1840060106.

  PMID: 3943787 BACKGROUND

• Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 1997 Sep;61(3):762-4. No abstract available.

  PMID: 9326341 BACKGROUND

• Brink B, Disler P, Lynch S, Jacobs P, Charlton R, Bothwell T. Patterns of iron storage in dietary iron overload and idiopathic hemochromatosis. J Lab Clin Med. 1976 Nov;88(5):725-31.

  PMID: 978039 BACKGROUND

MeSH Terms

Conditions

Hemochromatosis; Iron Overload

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: December 10, 2002
• Study Start: June 1, 1995
• Study Completion: June 1, 2000
• Last Updated: March 4, 2008

Record last verified: 1999-06

Locations

US (1)