If there is an elevated HIC, phlebotomy should be initiated. In the rare child with symptoms suggestive of hemochromatosis, but without a family history, serum iron studies should be drawn. Further evaluation and treatment should be dictated by the results of the serum iron studies. In summary, we report the use of mutation analysis in the diagnosis of HH in children. The importance of this new diagnostic test is the ability to document a potentially serious disease before symptoms develop, thus allowing timely screening and early intervention.
Commercial testing is now available.
The appropriate use of this test may lead to an earlier diagnosis of HH, making this a treatable disease of childhood, rather than a potentially serious disease of adulthood. At the present time routine population screening can not be suggested. The question of insurability not withstanding, presently there is no cost-effective means to attain this goal. Further research is needed to determine when iron studies indicate overload, thus allowing better, more economical, recommendations on the appropriate timing for screening. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors.