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Screening the Children, Brothers, and Sisters of Persons with Hereditary Hemochromatosis FREE

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The summary below is from the full report titled “Screening for Hereditary Hemochromatosis in Siblings and Children of Affected Patients. A Cost-Effectiveness Analysis.” It is in the 15 February 2000 issue of Annals of Internal Medicine (volume 132, pages 261-269). The authors are H.B. El-Serag, J.M. Inadomi, and K.V. Kowdley.

Ann Intern Med. 2000;132(4):261. doi:10.7326/0003-4819-132-4-200002150-00029
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What is the problem and what is known about it so far?

In hereditary hemochromatosis, a genetic disease, iron is deposited in the tissues, which can lead to serious liver damage (cirrhosis), diabetes, heart failure, arthritis, and bronze discoloration in the skin. Most people do not know they have hemochromatosis until organ damage has occurred, but damage can be prevented (by removing iron-rich blood) if the iron overload is detected early. Several screening tests, including blood tests for iron, biopsies, and CT scans of the liver, are available that permit early diagnosis and treatment. More recently, a test for the HFE gene, the most common genetic abnormality, has been developed.

Why did the researchers do this particular study?

They wanted to see which strategy for screening close relatives of patients with known hemochromatosis was best at preventing organ damage and at reasonable costs.

Who was studied?

Instead of actual patients, the researchers used computers to describe what would happen to a “virtual” group of 10-year-old children and 45-year-old siblings of known hemochromatosis patients.

How was the study done?

The researchers compared the following screening approaches to each other and to no screening at all.

1. Do periodic blood tests for iron in all close relatives.

2. Test the patient for the abnormal gene, and if the patient has two copies of the abnormal gene, test the spouse for the gene. If the spouse has one copy of the abnormal gene, test the children for the gene.

3. Test the patient for the gene; if the patient has two copies of the abnormal gene, then test all of the patient's close relatives for the gene.

4. Test all close relatives for the gene.

Information about what might happen to patients with each approach and about costs came from previous studies.

What did the researchers find?

When the patient has only a single child, gene testing the patient first, then the child, costs $508 per year of life saved and is most cost-effective. When the patient has two or more children, screening the patient, then the patient's spouse, costs $3665 per year of life saved and is most cost-effective. For siblings, all screening strategies that use gene testing cost less than blood tests for iron.

What were the limitations of the study?

This study was a computer simulation and cannot tell us exactly what would happen with actual patients. The results apply only to siblings and children of patients with hemochromatosis due to the most common gene abnormality (the HFE gene), but other genes can also cause it.

What are the implications of the study?

Screening children and siblings of people with known hemochromatosis by using HFE gene testing seems to be more cost-effective than testing for blood iron levels.





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