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Iron Overload in African Americans

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: March 3, 2008
Last verified: June 1999

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.

Iron Overload

Study Type: Observational
Official Title: Iron Overload in African Americans

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 500
Study Start Date: June 1995
Estimated Study Completion Date: June 2000
Detailed Description:
The purpose of this project is to determine the pattern of inheritance of primary iron overload in African American families and to identify the genetic defect. The iron status of index subjects and family members will be determined by measuring transferrin saturation and serum ferritin, and the genetic pattern will be studied with segregation analysis. The chromosomal localization of the iron-loading locus will be pursued by determining HLA haplotypes, by testing for HFE gene mutations, by sequencing portions of genes for molecules involved in iron metabolism, by analyzing polymorphisms in these genes by PCR, by employing molecular methods to screen the genome, and by testing for linkage to iron phenotype with lod scores. Loci for proteins important in iron metabolism will be examined as candidate genes.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001455

United States, Maryland
National Institute of Child Health and Human Development (NICHD)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  More Information

Publications: Identifier: NCT00001455     History of Changes
Other Study ID Numbers: 950142
Study First Received: November 3, 1999
Last Updated: March 3, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
Iron Metabolism
Iron Storage Disorder
Iron Overload

Additional relevant MeSH terms:
Iron Overload
Iron Metabolism Disorders
Metabolic Diseases
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Trace Elements
Growth Substances
Physiological Effects of Drugs processed this record on May 25, 2017