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Iron overload and Hemochromatosis
Detection and Diagnosis of Iron Overload due to Hemochromatosis
Identifying people early with evidence of hemochromatosis represents a
major chronic disease prevention opportunity. Because hemochromatosis
caused by iron overloading is common and can be effectively treated with
periodic phlebotomy, both the medical community and patient support groups
have advocated population screening. In fact, it has been suggested that
hereditary hemochromatosis serve as a model for formulating policy
decisions about genetic-associated diseases, in particular for decisions
about the usefulness of genetic screening. However, at this time, CDC does
not recommend universal screening for hereditary hemochromatosis because
of many unresolved issues.1,2 Of utmost concern is the
uncertainty about what proportion of people with genetic risk or
biochemical evidence of iron overload will develop the complications of
hemochromatosis. Although HFE gene mutation testing can identify those
relatives who carry susceptible genotypes, testing iron status directly is
not only more relevant clinically than genetic testing but also avoids the
possibility of adverse genetic discrimination.1
CDC currently recommends iron overload testing for people who have a
close blood relative with hereditary hemochromatosis, because they have a
substantial risk of developing clinical complications and represent an
ideal group for targeted prevention efforts. In addition, people experiencing the unexplained symptoms compatible with hemochromatosis
(severe weakness or fatigue; unexplained joint or
abdominal pain; signs of liver disease, diabetes, or heart problems;
impotence; infertility; and loss of menstrual periods) should also be
tested.2 Testing to exclude other causes of these medical
problems should also be performed.
People with elevated iron or liver function measures should be monitored
by their health care provider. Strategies are needed to disseminate
information to family members about their genetic risk and to aid their
efforts to be tested. This challenge must be accomplished in the course of
patient care. Educational efforts are needed to heighten awareness of the
genetics of iron overload and prevention opportunities among family
members. To this end, CDC, in collaboration with its partners, is
conducting a national education campaign to heighten health care
providers' awareness of the need for early diagnosis and treatment of
hemochromatosis. Health care providers must maintain a
heightened index of suspicion for patients with the early non-specific
symptoms of hemochromatosis and encourage family-based detection for
hemochromatosis patient families.
References
- Reyes M, Dunet D, Blanck HM, Grossniklaus D. Hemochromatosis:
information and resources for health care providers. Centers for Disease
Control and Prevention Genomics and Population Health: United States,
2003. Atlanta, GA; 2004
- Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, et al.
Hereditary hemochromatosis. Gene discovery and its implications for
population-based screening. JAMA 1998;280(2):172—8.
- Cogswell ME, Burke W, McDonnell SM, Franks AL. Screening for
hemochromatosis. A public health perspective. Am J Prev Med
1999;16(2):134—140.
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