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Trial Information

Current as of March 16, 2025

Completed

Keywords

Genetics Hemochromatosis Iron Metabolism Iron Storage Disorder Pedigree Iron Overload

ClinConnect Summary

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...

Gender

ALL

Eligibility criteria

  • 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.

About Eunice Kennedy Shriver National Institute Of Child Health And Human Development (Nichd)

The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is a prominent research agency within the National Institutes of Health (NIH), dedicated to advancing the health and well-being of children, families, and individuals across the lifespan. NICHD supports a wide range of clinical trials and research initiatives aimed at understanding the complex biological, behavioral, and environmental factors that influence human development and health. By fostering innovative research and facilitating collaboration among scientists, healthcare professionals, and communities, NICHD plays a vital role in translating scientific discoveries into effective interventions and policies that enhance child health, reproductive health, and the prevention of diseases.

Locations

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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