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Related Experiment Video

Updated: May 4, 2026

Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay

Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay

Published on: January 31, 2022

Screening for hemochromatosis in primary care settings

S M McDonnell¹, P D Phatak, V Felitti

¹Centers for Disease Control and Prevention, Atlanta, Georgia 30303, USA. sem0@cdc.gov

Annals of Internal Medicine

|December 29, 1998

Summary

Screening for hemochromatosis is feasible in routine care. Key challenges include case definitions, threshold values, test standardization, physician education, informed consent, patient compliance, and iron deficiency detection.

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Area of Science:

Medical screening
Genetic disorders
Public health

Background:

Growing interest in routine hemochromatosis screening for adults.
Previous screening programs faced significant implementation challenges.
Iron overload disorders require early detection to prevent chronic disease.

Purpose of the Study:

To identify and analyze challenges in implementing hemochromatosis screening programs.
To share lessons learned from completed screening initiatives.
To inform future efforts in iron status screening.

Main Methods:

Analysis of experiences from four hemochromatosis screening programs.
Review of challenges including case definitions, screening thresholds, and test standardization.
Discussion of physician education, informed consent, and patient compliance.

Main Results:

Prevalence of iron overload from hemochromatosis reported as 4.2-4.5 per 1000 screened.
Screening is feasible, with a proposed definition based on elevated transferrin saturation.
Identified challenges include test variability, physician education, and discrimination concerns.

Conclusions:

Hemochromatosis screening is practical and can identify iron overload before disease progression.
Standardized definitions and improved physician education are crucial for successful implementation.
Further research is needed on predicting clinical expression using genetic and phenotypic tests.