How do you know if you have hemochromatosis?  Is there a blood test, a genetic test, what do you have to do to figure this out?  In this article we will  look at some of the blood testing, and genetic testing that confirm and tell you for sure whether or not you have hemochromatosis.  There are different scenarios where you may have high iron and blood levels suggesting hemochromatosis.  We are going to look at the specifics. 

If you want to know how you know when you have hemochromatosis, keep reading. 

What is Hemochromatosis?

We will look at some of the lab values that suggest you might have this but first a little bit on what hemochromatosis is.  Hemochromatosis is a genetic disorder of increased iron absorption.  There are certain signs, lab values and physically signs that one might see if they have this.  In later stages you might see manifestations of on the skin, for instance.  There are also a lot of different symptoms that one can have from this.  We are not going to get into all of the signs and symptoms in this video.  Instead we want to discuss  the lab tests and the genetic tests that suggest and confirm hemochromatosis.   

Typically people are asking this question when they have lab results that suggest you might have this (after a google search maybe?).  The results that come up in labs that may hint or suggest this are things like elevated red blood cells, elevated hemoglobin, elevated hematocrit, elevated serum iron, decreased total iron binding capacity, and elevated ferritin.   Of course there are a lot of things other than hemochromatosis that can cause these lab values to be elevated or decreased. 

We won't go into all of the different scenarios that can make things go up or down.  I do want to point out a few things though.  An elevation in red blood cells and hemoglobin is common when you are on testosterone replacement therapy.  This can occur in both males and females.  Of course,  ferritin can also go up in people with autoimmune issues or just really sick with a lot of inflammation.  Of all these tests, the one that raises the most suspicion for having hemochromatosis is the ferritin.  At least in the case that there is no increased inflammation or autoimmune issues.   

When ferritin above 300 in females you definitely should be suspicious maybe even a little bit lower.  When it's above five hundred for males you should be suspicious too.  It really depends on the age of the person and what's going on with them.   For example females are menstruating losing a lot of iron.  So if she has an ferritin that's above two hundred and fifty and she is still menstruating that is a red flag (especially if there is no inflammation).  For males, the diagnosis or alarm tends to come up a little bit earlier because they're not losing blood on a regular basis.   Still just having these elevated numbers does not tell us you have hemochromatosis you have to do more testing more investigation to discover this. 

Testing For Hemochromatosis 

Iron saturation or serum transfer saturation is the most sensitive and specific blood test that you can do for hemochromatosis.  When you do this test and it comes out positive, we have a high conviction that you have hemochromatosis.   What is a positive result?  This test shows a percentage and the result will be different for males and females.   When it's above forty to forty five or anything higher for males then that is highly predictive of hemochromatosis.  For females anything above thirty five to forty is also highly predictive of hemochromatosis .   

In some cases the other blood tests mentioned above may be normal but you still have a high transferrin saturation.  This just means you are catching it earlier on and you will get all the sings of hemochromatosis in the future (if not treated).  The transferrin is the transport protein for iron.   As the saturation on that protein increases, more of it gets transferred into storage which is the ferritin protein.   Ferritin levels then go up and increase as a result.  Of course, ferritin can go up for other reasons outside of saturation of the transferrin.   Ferritin serves as a way to safely hold iron and prevent the iron from causing free radical damage.  It's a safe way to store and release iron on an as needed basis.  Iron is toxic to cells when there's too much around.   If all the iron we needed was just freely floating around and all the transferrin carrier protein was fully saturated, your more likely for the oxidative damage to the cells. 

The protein called ferritin is a way to protect the body against this oxidative damage.  Once that iron starts building up higher and higher that suggests that you are absorbing too much or consuming too much.  Yes you could just be consuming too much when you have a high ferritin. 

What Cause Iron Levels To Be High?

When the percentage of transportation in that transferrin goes up, that's how you know you are getting some increased absorption.   This is the first sign that there is increased absorption of the iron, the hallmark of hemochromatosis. 

Genetic Testing For Hemochromatosis 

There is genetic testing for hemochromatosis as well.  This is also a very reliable way to understand whether or not you have hemochromatosis.  It's also a way to understand how efficient your body is at absorbing iron and what your risks are for getting iron overload issues.   The main alteration that creates hemochromatosis is a homozygous alteration in the C282Y gene.  When you have two copies, one from each parent, that is homozygous, you have and or will get hemochromatosis.  It also means that if you have a parent with hemochromatosis, it doesn't necessarily mean you're going to get it, because you do need two copies.   When you have a parent with hemochromatosis you will get one copy from that parent and that will increase your iron absorption.  However, it is not going to lead to iron overload.   Other factors have to come into play like other genetic alterations that also increase your iron absorption.   

Some of those you could just be heterozygous.   If you had a heterozygous alteration for the C282Y plus a heterozygous for the H63D gene, that may create a problem and may lead to hemochromatosis.  So it really just depends on all your genetics.  From a pure iron overload situation diet does play a role and whether or not you are a male or female does too.   With just one of the C282Y alterations that could potentially lead to an iron overload as well.  For the most part it's the C282Y that causes the increased iron absorption and hemochromatosis.   There are some other genetic combinations that creates this but this is the main one.   A secondary one would be the HFE H63D.  

If you do have problems with your blood work, family history, or genetics that suggests hemochromatosis, make sure you get tested for transferrin saturation.   This will tell you if your iron is possibly spilling into your tissues and causing damage.   If it is high or high normal you may want to get genetic testing as noted above or just follow the numbers more closely.   

That should give you a better understanding of how you know when you have hemochromatosis.  If you have questions about the content in this article, please ask it in the comment section below.

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