Featuring Dr. Richard Bebb, MD, ABIM, FRCPC, Endocrinologist

Duration: 3 minutes, 16 seconds

The diagnosis of hemochromatosis has become easier in recent years. It’s a genetic disorder, and most patients with hemochromatosis in North America are going to have certain genetic abnormalities that originated in Northern Europe, and the genetic type of hemochromatosis is readily screened by doing the test.

If we suspect a patient has iron overload, has hemochromatosis, we’ll measure the iron in the blood. And there are various different ways of doing that, and if the iron is abnormal or potentially abnormal, then going further and doing genetic testing is indicated to confirm that the patient has hemochromatosis.

The other advance with genetic testing is as it’s a hereditary disorder, if you have been diagnosed, the possibility of measuring the genetic test in your relatives or your children is an option, and should be done to let them know early that they’re prone to iron overload complications.

How do you treat hemochromatosis? First of all is to make the diagnosis and let patients know that they are genetically unable to metabolize and deal with iron like other people. So they should avoid taking excessive iron.

That would include multivitamins that have iron in it, there are actually multivitamins made without iron, which are appropriate for patients who have hemochromatosis. Iron supplements of course should not be taken because they’ll make the disease worse and bring the disease on and develop it earlier in your life.

To get the iron out of your body, though, we need to do phlebotomies. That is the intermittent drawing off of a unit or so of blood. By doing that repeatedly, over a period of time, and that’ll take months off, or maybe a year or longer, we can deplete your body of the excessive iron stores. And by that, try and prevent any further damage to your body from excessive iron.

From the patient’s point of view, it’s important to be compliant with the phlebotomies, to make sure you get your iron levels low, to monitor for manifestations of the disease, and some of them can be somewhat difficult to detect. Particularly, the hormone or endocrinal abnormalities, and seeing an endocrinologist can be helpful for that, as some of them are indeed subtle.

And sometimes it may require the attention of a gastrologist if you’ve had liver damage, or a cardiologist if you’ve damaged your heart, or a joint specialist, orthopedic surgeon or a rheumatologist if you’ve had your joints affected by the disease.

So if you think you have hemochromatosis, or if you have a relative who has just been diagnosed, you should discuss it with your primary care practitioner and have the appropriate tests done.

Presenter: Dr. Richard Bebb, Endocrinologist, Victoria, BC

Local Practitioners: Endocrinologist