Decoding Hemochromatosis Stages

Are you looking at some blood values and wondering if you might have hemochromatosis and what it indicates? My name's Dr. Terranella, and in this video, we're going to look at hemochromatosis stages and look at some of the things that may show up as you're progressing through the stages of hemochromatosis. Well, obviously, you don't want to progress through the stages. You want to catch it early, and so in this video, we're going to look at some of the things that may be showing up at different stages.

Most of the time, most people are going to catch this early if they're actually looking for it, which is what I'd recommend doing. If you have a family history of this, definitely. But even if you have Northern European ancestral genes, it's important to look at this as well.

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In this video, we want to look at and understand the hemochromatosis stages, of which there are several, which go from more subtle to more severe complications. Hemochromatosis is a genetic disorder characterized by excessive absorption and accumulation of iron into your body and into the different tissues of your body. If untreated, it can lead to iron overload, which can damage organs or tissues over time. The progression of hemochromatosis is usually divided into four different stages, based on the overall accumulation of iron in the body and the organ damage that is taking place.

I will present the four stages, and just know that each stage gets progressively worse. So things that were present in stage one are also going to be present in stage four, but to a greater extent. You have to remember that as transferrin saturation, which is the protein that carries iron, goes up, it means that incoming iron gets less and less bound up, leaving it free to damage tissues and organs as it is left unbound and circulating in the blood, bumping into things and damaging them.

As the amount of iron in our bodies goes up, it becomes more and more difficult for our bodies to deal with that as the antioxidant systems in our bodies get taxed and depleted. Also, that iron starts to accumulate in tissues versus staying in the blood, but that accumulation process damages those organs and tissues, and that's where the symptoms start to come from.
Okay, so let's look at the actual stages of hemochromatosis. Stage zero is just having the genetic predisposition without any actual problems present.

Stage one is an actual stage, and it is kind of preclinical. This is where there are really no symptoms occurring. Routine lab tests are usually going to be completely normal and there is not going to be any indication of a problem. However, if you do end up getting a transferrin saturation test done, it's probably going to show upwards of 50 to even 55%. The ferritin is going to be normal in this stage when it is early on.

Stage two is when you are starting to get mild iron overload. Stage three is when you have moderate iron overload. This is when you may start to experience some symptoms, such as fatigue, joint pain, and liver damage.

Stage four is when you have severe iron overload. This is when you are at risk for serious complications, such as heart disease, diabetes, and liver failure. So iron accumulation begins here, and it may start to cause early signs and symptoms of organ damage. Those symptoms could be things like joint pain, fatigue, and overall weakness.

At this stage, your lab tests may still be pretty normal, but that serum transferrin saturation is definitely going to be high, around 50, 55% or even higher, and the serum ferritin is going to start to rise and be mildly elevated there. So it may not be outside the reference range, but it's going to be close to the upper end of the reference range, if not above it. You may also start to see some elevated liver enzymes, as that's one of the early places where the iron accumulation starts to hit.

In stage three, there are moderate iron overload symptoms and problems. So there's going to be more pronounced symptoms, whether it's severity in the global scale of those symptoms, and the damage in the body is going to become more evident. Symptoms can include things like abdominal pain, more joint and muscle pain.

Your skin can start to get discolored as the iron can even start to accumulate or deposit into your skin. And of course, there's going to be fatigue and weakness as well. Laboratory tests here are going to start to show more and more elevations of that ferritin. At this stage in the game, it's probably going to be outside of the reference range.

The saturation of transferrin is going to be high, as well as a percentage, you know, north of 50%. The liver damage may be progressing to where the liver enzymes are higher and higher. You may even start to see signs of cirrhosis with low platelets or other liver problems, liver enlargement, et cetera.