Screening for hemochromatosis and iron overload: satisfaction with results notification and understanding of mailed results in unaffected participants of the HEIRS study.

AIM: The purpose of this study was to assess the level of satisfaction and understanding of test results, by a sample of non-C282Y homozygous participants in the hemochromatosis and iron overload screening (HEIRS) study, who received serum ferritin (SF), transferrin saturation (TS), and HFE gene test results by mail. METHODS: Approximately 1 month after receiving test results by mail, participants were surveyed about understanding of and satisfaction with results notification. RESULTS: Overall, participants were satisfied with receiving test results by mail. Participants receiving results with one or two HFE mutations or TS and/or SF levels outside the normal range (an "alert value") were less likely to be satisfied with this method of notification. Participants with normal HFE test results understood their results and recommendations better than those with one or two mutations. Although all participants received results letters in their native language, English-speaking participants had higher mean understanding scores than Mandarin, Vietnamese, or Spanish-speaking participants. CONCLUSION: Participants were satisfied with receiving test results by mail. However, the level of understanding of the results was not sufficient for this mode of results notification to stand alone, especially for non-English speaking participants, and all participants with one or more test results outside the normal range.

Genetic screening for iron overload: No evidence of discrimination at 1 year.

PURPOSE: This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload. METHODS: 101,168 primary care patients from the US and Canada were screened for iron phenotypes and HFE genotypes associated with hemochromatosis. Those identified to be at risk (2253) were offered a clinical examination, which 1677 (74%) accepted, and the 1154 of these who responded to an initial questionnaire about psychosocial issues were surveyed 1 year later about whether they had experienced problems with insurance or employment that they attributed to hereditary hemochromatosis and iron overload. RESULTS: 832 (72.1%) of the 1154 participants surveyed after 1 year responded to the second survey. Three (0.4%) had verified problems with insurance or employment that they believed were related to hereditary hemochromatosis and iron overload. Two had problems with life insurance, and one with long-term care insurance. All 3 had elevated iron levels but not a relevant HFE genotype. One of the life insurance problems was resolved; the second one was not serious. The participant who was denied long-term care insurance had other health conditions unrelated to hereditary hemochromatosis and iron overload that could have contributed to the denial. No problems were verified for health insurance or employment, or from any of the comparison group participants (controls and those with inconclusive screening results). CONCLUSIONS: The risk of insurance or employment problems 1 year after phenotype and genotype screening for hereditary hemochromatosis and iron overload is very low.

Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study.

OBJECTIVE: We evaluated the associations of self-reported diabetes with serum ferritin concentration, transferrin saturation (TfSat), and HFE C282Y and H63D mutations in six racial/ethnic groups recruited at five field centers in the Hemochromatosis and Iron Overload Screening (HEIRS) study. RESEARCH DESIGN AND METHODS: Analyses were conducted on 97,470 participants. Participants who reported a previous diagnosis of diabetes and/or hemochromatosis or iron overload were compared with participants who did not report a previous diagnosis. RESULTS: The overall prevalence of diabetes was 13.8%; the highest prevalence was in Pacific Islanders (20.1%). Of all participants with diabetes, 2.0% reported that they also had hemochromatosis or iron overload. The mean serum ferritin concentration was significantly greater in women with diabetes in all racial/ethnic groups and in Native-American men with diabetes than in those without diabetes. The mean serum ferritin concentration was significantly lower in Asian men with diabetes than in those without diabetes. Mean TfSat was lower in participants with diabetes from all racial/ethnic groups except Native-American women than in those without diabetes. There was no significant association of diabetes with HFE genotype. The mean serum ferritin concentration was greater (P < 0.0001) in women with diabetes than in those without diabetes for HFE genotypes except C282Y/C282Y and C282Y/H63D. Log serum ferritin concentration was significantly associated with diabetes in a logistic regression analysis after adjusting for age, sex, racial/ethnic group, HFE genotype, and field center. CONCLUSIONS: Serum ferritin concentration is associated with diabetes, even at levels below those typically associated with hemochromatosis or iron overload.