Carrie in Moncton, NB writes:

What positive combinations of genes cause iron overload (hemochromatosis)?

Dear Carrie,

There are several positive combinations resulting from the HFE genetic test:

• C282Y / C282Y - homozygous for the HFE Type 1 Hemochromatosis.  The majority of hemochromatosis individuals have this combination, with severe biochemical iron overload occuring in most, if not all, of the individuals.
• C282Y / H63D -compound heterozygous for HFE Type 1 Hemochromatosis.  Significant iron overload occurs in only 15% of these individuals.  In the other 85%, the iron overload is generally much less severe.
• H63D / H63D - homozygous for HFE Type 1 Hemochromatosis.  Iron overload is unusual, with not much chance of organ damage, although other (genetic and environmental) factors may play a role.

A positive HFE genetic test will implicate other family members who should be tested.  First degree relatives (parents, siblings and children) are at risk of being carriers of the HFE gene, or inheriting both abnormal copies of the HFE gene and developing hemochromatosis.

Bob Rogers
Executive Director
Canadian Hemochromatosis Society
www.toomuchiron.ca

*Note: When responding to a health related question, this information is intended for general guidance only. The Canadian Hemochromatosis Society disclaims for itself, and for the author of this information, all responsibility for any misstatements or for consequences of actions taken by any person while acting on information contained herein. Physicians and patients must make their own decisions about therapy according to the individual circumstances of each case.