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


We conducted a survey of HH patients, aged 18 years and older residing in the United States, who were diagnosed with HH after 1996. We focused on individuals diagnosed after 1996 so that they had the opportunity to be diagnosed by both genetic and clinical markers.

We worked closely with the Iron Disorders Institute (IDI) to identify a patient population for study. The IDI is a nonprofit patient support and advocacy organization that promotes hemochromatosis education. It is not a tertiary care center and does not provide clinical care. The IDI patient database is the largest and most comprehensive listing of patients with HH in the United States. This survey and study was approved by the Medical University of South Carolina's institutional review board.

Survey Design

We used a mail survey strategy that has been successfully demonstrated to achieve acceptable response rates.[8] An initial mailing was sent out, inviting individuals from the IDI database to participate. Three follow-up mailings were sent to nonresponders, and phone calls were attempted for the final nonresponders.


The respondents were asked if they were ever diagnosed with HH by a doctor or health professional. If they answered yes to this query, they were asked, "What type of doctor or health professional gave you the diagnosis of hemochromatosis?" The response options were family medicine/general practice, internal medicine, gastroenterologist, hematologist, and other. We categorized family medicine/general practice and internal medicine as primary care. The respondents were asked if they were ever genetically tested for HH; then, if they answered affirmatively, they were asked if the genetic testing was performed before a diagnosis of iron overload, after a diagnosis or iron overload, or to confirm a diagnosis of HH.

The types of treatment that respondents received at initial diagnosis were assessed. Respondents were asked if they improved with the initial treatments. The respondents also were asked about current treatment regimens. The usefulness of resources and information sources were assessed by the respondents. Finally, demographic characteristics of age, race/ethnicity, sex, and year of diagnosis were collected.


We computed descriptive statistics (means, standard deviations, and proportions) of the variables and examined the distributions of the responses. In addition, we stratified answers to the questions about the usefulness of information resources and motivation to access information by age, education, and income status and used χ2 analysis to examine differences. We also conducted logistic regressions examining variables related to the receipt of different laboratory tests before diagnosis.


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