Family Members Screening for Hemochromatosis

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All first degree relatives of patients with HFE-associated HH should be offered screening for HH. Screening of adults should include both a genetic test for HFE mutations and serum iron studies to measure fasting transfer-rin saturation and ferritin. The tested relative is unlikely to have HH if the fasting iron studies are normal and the patient is neither homozygous for the C282Ymutation or a compound heterozygote (C282Y/H63D). Alternatively, if the tested relative is either homozygous for the C282Y mutation or is a compound heterozygote with an elevated ferritin or transferrin saturation, then the patient has HH and a therapeutic phlebotomy program should be initiated. Screening of minors raises the potential for genetic discrimination in regards to future insurance and/or job candidacy. Therefore, it is appropriate to first perform HFE analysis in the other parent. This may obviate the need to test the children if the other parent has no HFE mutations. Family screening for HFE mutations has been shown to be beneficial. Recent studies have shown grade 3 or 4 iron stores on liver biopsies in > 25% of siblings; 10 to 15% had some degree of hepatic fibrosis with 3% having cirrhosis.

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