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Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients
V Balan1, W Baldus, V Fairbanks
1Division of Gastroenterology and Internal Medicine, Mayo Clinic, Rochester, Minnesota.
Gastroenterology
|August 1, 1994
Summary
Screening Mayo Clinic patients for hemochromatosis identified new cases, demonstrating the value of testing individuals seeking medical care. This approach is cost-effective for early detection and prevention of liver damage.
Area of Science:
- Internal Medicine
- Gastroenterology
- Genetics
Background:
- Hemochromatosis screening traditionally targets general and high-risk populations.
- Early detection and treatment are crucial to prevent liver damage and hepatocellular carcinoma.
Purpose of the Study:
- To evaluate the yield of screening patients seeking medical care for hemochromatosis.
- To assess the cost-effectiveness of this screening approach.
Main Methods:
- Serum iron, transferrin saturation, and ferritin levels were measured in 12,258 fasting patients.
- Elevated iron markers prompted further investigation, including hepatic iron concentration and index when necessary.
Main Results:
- Eight patients met criteria for iron overload; three were confirmed homozygous for hemochromatosis.
- One likely homozygous and two probable heterozygous cases were identified.
- No patients had cirrhosis, diabetes, or cardiomyopathy at the time of diagnosis.
Conclusions:
- Screening patients seeking medical care yielded 0.33 cases per 1000 screened, lower than predicted but still cost-effective.
- This study highlights the importance of considering hemochromatosis screening in patients presenting for medical care.
