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


A key finding of this large national survey of persons with diagnosed HH is that the majority of them have been genetically tested since the introduction of tests for the HFE gene mutations. Of those who were genetically tested, 45.6% were tested to confirm their clinical signs and ymptoms.

These data show that genetic testing is being used primarily to confirm a clinical diagnosis rather than as a screening tool.

The patients found information about hemochromatosis provided via the Internet, their health care provider, and community-based groups to be useful. This reinforces the need for primary care providers to be kept abreast of and educated on current information about the diagnosis and treatment of hemochromatosis. Primary care providers need to know about the health information needs of the patients to effectively direct those patients who want to learn more about hemochromatosis.

As might be expected, patient interest in learning more about specific hemochromatosis topics was generally high. These data can help organizations and health educators in developing education programs and outreach strategies that will help to meet

the needs of the patient community. Most of the respondents thought their hemochromatosis had improved with initial treatment and most patients were still receiving treatment for HH. These findings are consistent with phlebotomy as the standard of care for hemochromatosis.

Patients can and are getting appropriate care for their disease.

There are several limitations of this study that need to be noted. First, the response rate was not as high as desired, which limits the generalizability of the results. Second, the survey is based on self-report, for which there may be some recall bias for individuals who were diagnosed several years earlier. However, key health events in an individual's life tend to have high recall.[9] Third, the survey was sent to persons in a disease-specific database of one organization and may not be representative of the general US HH population. Fourth, because the majority of participants were from similar demographic backgrounds, it is hard to determine if information resources should be expanded to those in different age, income, or education strata. However, diagnosed hemochromatosis tends to be found among middle-aged whites, thereby naturally decreasing the diversity of the potential sample.

In conclusion, hemochromatosis patients in the United States are being diagnosed in specialty care with genetic tests as confirmation of clinical findings. Once diagnosed, the patients nearly universally report receiving standard therapy. The patients do want more information about treatment and self-care. Improving recognition and appropriate diagnosis in primary care, thereby increasing early detection, and providing more resources for disease management are the appropriate next steps in improving diagnosis and treatment of hemochromatosis.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.