prevention
opportunity. Because
iron loading due to hereditary hemochromatosis 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 hemocromatosis
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 issues1,2. 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 iron overload. Although HFE
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 persons who have a
close blood relative with hereditary hemochromatosis, since they
have a substantial risk of developing clinical complications and
represent an ideal group for targeted prevention efforts.
In addition, persons experiencing the unexplained symptoms
compatible with hemochromatosis (these symptoms include 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. Persons
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 other
partners, is developing a national education campaign to heighten
health care providers’ awareness of the need for early diagnosis
and treatment of iron overload due to hereditary hemochromatosis.
1.
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.
2.
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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