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

Abstract and Introduction


Background : Hereditary hemochromatosis (HH) is a common genetic disease in the United States, but little is known about the diagnosis from the patient's perspective. The purpose of this study was to characterize the circumstances surrounding the diagnosis of HH and assess treatments and health information needs.
Methods: We surveyed US adults aged 18 years and older who were diagnosed with HH after 1996. Response rate was 46%, with a total sample size of 979. Respondents were asked about the use of genetic and clinical markers in their diagnosis, current treatments, and health information needs.
Results : Results were stratified by age, education, and income status. Total of 90.0% of women and 75.5% of men were genetically tested for HH (P < .01). Approximately half (52.5%) were diagnosed by a gastroenterologist, hematologist, or other specialty physician and half were diagnosed by a primary care provider. Most of the respondents thought their HH had improved with the initial treatment and most patients were still receiving treatment for HH. Patient interest in learning more about specific hemochromatosis topics was generally high.
Conclusions : Since the introduction of genetic identification of HH, these tests have been used in the diagnosis of the majority of patients. Primary care physicians may need to be more aware HH and strategies for diagnosis.


Hereditary hemochromatosis (HH) is one of the most common genetic diseases found in white Americans and can be fatal if not treated.[1,2] HH is an autosomal recessive disease that results from significant iron overload due to hyperabsorption of iron from the diet.[1–3] Historically, HH has been clinically diagnosed with biological markers of iron overload, specifically elevated transferrin saturation and elevated ferritin, and then treated with phlebotomy.[4,5] Early detection and treatment of blood disorders are consistent with the mission and objectives of Healthy People 2020.[6]

In 1996, the hemochromatosis gene (HFE) was identified and 2 HH-associated mutations were identified: C282Y and H63D.[7] According to US prevalence studies, approximately 6.6 million Americans are homozygous for the C282Y or H63D mutations of HFE while another 6 million are compound heterozygotes, possessing one each of these mutations.[2] Compound heterozygotes and H63D homozygotes are at minimal risk for HH whereas C282Y homozygotes comprise the vast majority of people with HH. It is unclear how great of an impact the identification of the hemochromatosis gene has had on the diagnosis of HH. Thus, the purpose of this study was to investigate the use of genetic testing as well as to assess the health information needs among individuals in the United States diagnosed with HH after 1996.


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