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Updated: Aug 10, 2026
05:23
Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
Published on: March 14, 2017
Hereditary hemochromatosis: screening and management
1The Scripps Research Institute, La Jolla, CA 92037, USA. jwaalen@scripps.edu
Current Hematology Reports
|March 16, 2006
Summary
Hereditary hemochromatosis definitions evolved, but low C282Y HFE gene penetrance means general population screening isn't advised. Targeted screening in specific groups like cirrhosis patients may benefit from iron removal therapies.
Area of Science:
- Medical Genetics
- Iron Metabolism Disorders
- Public Health Screening
Background:
- Hereditary hemochromatosis (HH) has evolved from a fatal iron overload disorder to a genetic condition defined by HFE gene mutations.
- Variable disease definitions and low penetrance of the C282Y homozygous genotype complicate screening strategies.
Purpose of the Study:
- To evaluate the efficacy of current screening strategies for hereditary hemochromatosis.
- To determine optimal approaches for identifying individuals who would benefit from iron removal therapies.
Main Methods:
- Review of multiple studies on HFE gene mutations and hereditary hemochromatosis penetrance.
- Analysis of diagnostic criteria and treatment outcomes for hereditary hemochromatosis.
Main Results:
- Overall penetrance of the C282Y homozygous genotype is low.
- Screening asymptomatic general populations for hereditary hemochromatosis is not recommended.
- Screening HFE mutations in specific patient groups, like those with cirrhosis, can identify candidates for iron removal.
Conclusions:
- Current evidence does not support general population screening for hereditary hemochromatosis.
- Targeted screening in at-risk populations is a more effective strategy.
- Phlebotomy remains the primary treatment, with iron chelation as an alternative for intolerant patients.
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