A National Survey of Hemochromatosis Patients

Arch G. Mainous III, PhD; Michele E. Knoll, MA; Charles J. Everett, PhD; Mary M. Hulihan, MPH; Althea M. Grant, PhD; Cheryl Garrison, BS; Gerald Koenig, BA; Cynthia Sayers, BA; Kelsey W. Allen, MPH


J Am Board Fam Med. 2012;25(4):432-436. 

In This Article


Our response rate was 46% (979 of 2121). A total of 50.3% were men, 98.5% were white, 70.0% were 50 years of age or older, 54.3% had undergraduate or graduate degrees, and 29.5% had a household income of more than $100,000. Also, of those who responded, 38.5% had been diagnosed since 2007 (within 3 years of the survey). Overall, 82.3% of the participants had been genetically tested for HH. Of the participants who had been genetically tested, 25.6% were tested before the diagnosis of hemochromatosis, 28.8% were tested after the diagnosis, and 45.6% were tested to confirm their clinical signs and symptoms. A total of 90.0% of women and 75.5% of men were genetically tested (P < .01).

Complaints of fatigue and complaints of painful joints were the only reported signs and symptoms that showed associations with different diagnostic tests before diagnosis. Relationships between complaints of fatigue and complaints of painful joints with testing for ferritin level, transferrin saturation, and liver biopsy and genetic testing are shown in Table 1. These logistic regressions were adjusted for age at diagnosis, sex, and race/ethnicity (non- Hispanic white vs nonwhite or Hispanic). The odds ratio associated with a ferritin level measurement increased if the respondent had a prior complaint of fatigue or a prior complaint of painful joints. Similarly, the odds ratio of a transferrin saturation measurement increased if the respondent had a prior complaint of fatigue or painful joints. The odds ratio of a liver biopsy increased if the participant had a prior complaint of painful joints but not if they had a prior complaint of fatigue. Neither prior complaints of fatigue nor prior complaints of painful joints were related to whether a participant was genetically tested for hemochromatosis.

In terms of physician diagnosis, about half were diagnosed by a gastroenterologist, hematologist, or other specialty physician (52.5%) versus those who were diagnosed by a primary care provider. The vast majority (94.4%) of the respondents had received treatment for HH. Of those who had been treated, nearly all (96.8%) initially had undergone phlebotomy and few (4.6%) had been treated initially with medication. A total of 75.5% said that the symptoms of hemochromatosis the experiences had improved with the initial treatment. A large majority of patients (85.6%) reported currently receiving treatment for HH.

Table 2 indicates the perception of the usefulness of available information resources and types of information sources. Of the respondents, 60.5% thought the Internet was extremely useful or very useful. However, 31.75% of those who were from the <$20,000 income stratum responded that they had never used this form of media compared with 8.51% of those who make more than $100,000 each year who said they had never used the internet (P < .01). In contrast, 84.3% to 89.7% of the respondents said they had never used video, patient support groups, or live patient education seminars. This phenomenon of low use of video, patient support groups, and live patient education seminars was seen with little differentiation among participants across age, income, and education strata.

Interest in learning more about specific hemochromatosis topics was generally high (Table 3). A total of 77.0% of the respondents were extremely interested or very interested in learning more bout treatment for hemochromatosis. Of all respondents, 84.7% were extremely or very interested in learning more about self-care tips, 80.9% in learning more about diet, and 88.2% in learning more about preventing complications. Among these respondents, those who made less money seemed to be more interested in learning about the aforementioned topics. Of those who made <$20,000, 72.41%, 70.11%, and 80.46% were extremely interested in learning more about self-care, diet, and information on preventing complications, respectively. In contrast, of those who made more than $100,000 each year, 50.19%, 46.77%, and 58.17% were extremely interested in learning more about the same topics, respectively (P <.01).


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