Genetics: Hereditary hemochromatosis

Judith Allanson; Christina Honeywell; Sean M. Blaine; Carol Cremin; Heather Dorman; Clare A. Gibbons; Jeremy Grimshaw; Wendy S. Meschino; Joanne Permaul; Brenda J. Wilson; June C. Carroll

Hereditary hemochromatosis is a common disorder. If the condition is identified early, treatment with therapeutic phlebotomy (when necessary) can prevent life-threatening complications, such as cirrhosis. Iron overload can be prevented completely in asymptomatic individuals with a genetic predisposition.

Bottom line

Patients should be offered genetic counseling or testing if they have either a family history of hemochromatosis or undiagnosed iron overload (transferrin saturation > 45%).

The complete Gene Messenger—Hereditary Hemochromatosis by the GenetiKit research team is available on CFPlus*. Past Gene Messenger articles can be accessed on-line at www.cfp.ca. On the homepage, click on Collections in the left-hand menu, then click on Genetics.

Acknowledgment

Funding was provided by the Canadian Institutes of Health Research.

Footnotes

Competing interests

None declared
↵* The Gene Messenger on hereditary hemochromatosis is available at www.cfp.ca. Go to the full text of this article on-line, then click on CFPlus in the menu at the top right-hand side of the page.