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Hemochromatosis
Raising Awareness of This Genetic Disorder
By Teri Brown
ess about hereditary hemochromatosis because it is one of the few conditions that has a management and treatment strategy that will ensure the patient of a normal life span if detected in the early stages of the disease," says Thomas. "Because of this fact, we urge everyone to be genetically tested as young as possible. Our organization's motto is Prevention Through Genetic Testing."
Thomas says there is an early way to test for hereditary hemochromatosis, an easy way to treat it and an easy way to manage it, yet the public is largely not aware of the disease. "Physician education is needed as well, so doctors will know how to recognize hemochromatosis," says Thomas. "But even more importantly, we need to have insurance companies realize the importance of covering iron storage tests and genetic testing for hemochromatosis, so that doctors will order the tests in the first place."
Having the gene mutations for hemochromatosis does not mean that the patient will necessarily have full-blown hemochromatosis. But Thomas notes that the chances are high the patient will have iron overload at some point in his life.
Thomas says any child who is at high risk for hemochromatosis based on a positive genetic result should simply be watched and monitored throughout their childhood to make sure they are not loading excess iron. The disease can usually be managed easily through diet, and not giving children's vitamins using iron.
"But it is important to remember that even children and adults with the gene mutations for hemochromatosis can have normal or low iron stores, so only proper testing can show for sure what their status is," says Thomas.
Many doctors do not feel that genetic testing for hereditary hemochromatosis is necessary, as most children do not develop iron overload until later in life, but it can be a lifesaver to older family members to know they may be storing an overload of iron. And like the Sheahans, you never know when the iron levels may start increasing.
Though diet is a management tool for HH, bloodletting (phlebotomy) is the treatment of choice and removes excess iron from the body more efficiently than any other known method at this time.
According to the AHS Web site
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