Hemochromatosis Lab Tests

Lab tests can tell us where exactly we are with respect to our health

Lab tests can tell us where exactly we are with respect to our health

Like we discuss in the Hemochromatosis Symptoms section, each individual expresses symptoms of iron overload differently.

As a result, Hereditary Hemochromatosis lab results are essential to acquire, interpret, and follow to monitor the progress of the affected individual.

Encouraging family members to get a complete iron panel and test for hereditary hemochromatosis is critical as well.

Depending upon the individual circumstances, I include the following tests to be the most important to consider in hemochromatosis:

  • Serum Iron
  • Ferritin Level
  • Total Iron Binding Capacity
  • Transferrin Saturation (aka Iron Saturation)
  • HFE Gene (Hemochromatosis DNA)

Serum Iron gives us a glance at the current level of iron in our bloodstream.  Clearly a significant finding, however our main concern is for the accumulation of iron in the tissues and organs.

Ferritin level is ultimately the most significant lab test to monitor the state of the condition as well as the progress of the treatment.  The ferritin test alerts us to the burden of iron in the cells.

Total Iron Binding Capacity (TIBC) measures, as you might guess, the available capacity of the blood to bind iron.

Transferrin Saturation is a ratio of serum iron to total iron binding capacity (multiplied by 100), and this value represents how much iron is in a bound form.

The HFE Gene test determines if an individual’s DNA contains any of the mutant alleles: C282Y, H63D, or S65C.

High Ferritin Levels

Ferritin is a protein that binds iron, and the ferritin level can tell us a great deal about the burden of too much iron upon a person.

In an unbound form, excess iron is toxic to our tissues, organs, and our bodies.  Free iron is a “pro-oxidant” and creates free radicals that will destroy the healthy function of our cells.

Iron is not all bad, of course, as it helps to build red blood cells and is a critical component of hemoglobin to transport oxygen and nutrients to the cells via the bloodstream.  Follow the link below to learn all about iron and its metabolic functions:

Balance is the key to health, and our bodies are very wise.  If our liver and our body detects too much iron, we compensate by making more of the protein ferritin.  Ferritin does its best to bind excess iron as a mechanism to reduce the harmful oxidation potential and toxicity of free iron.

Therefore, if the ferritin level is elevated, the most likely cause is iron overload.

High ferritin levels are not problematic in and of themselves, it is just that the elevated ferritin most often reflects a state of excess iron.

** Please note: Even though ferritin level most commonly reflects the burden of iron on the body, there are several other reasons why a person could have high ferritin– most notably in certain cases of inflammation or infection.

Additionally, I’ve seen a number of individuals have high, or very high ferritin levels due to the presence of iron in their drinking water. In my discussions with people in these circumstances, they had been (unknowingly) drinking high levels of iron in their water for many, many years. Even decades.

It just goes to show that we must take the whole picture of the person when evaluating the typical hemochromatosis lab tests.

Transferrin Saturation

Transferrin Saturation (TS%) is another lab test that can give us insight into diagnosing hemochromatosis and the state of iron overload in our bodies.

A mathematical equation dividing serum iron into total iron binding capacity (TIBC) and then multiplying by 100, transferrin saturation also indicates how much iron is bound by blood proteins.

Family Practice Notebook, a reference guide to primary care health providers, states that transferrin saturation is often the first lab test to change in hereditary hemochromatosis:

If the TS% is elevated, an individual has a 94% chance or greater of having a C282Y mutation.

An elevated transferrin saturation, along with an elevated serum iron, was my first clue that I had iron overload disease.  Because this lab test number was high, I proceeded to check for the presence of the HFE Gene for hereditary hemochromatosis.  Bingo!

Interestingly enough, I took a look through my prior lab tests from years past.  No doctors or health care practitioners that I saw in the previous decade had ever checked an iron panel, much less my ferritin level, transferrin saturation, or TIBC.  I had no reason to fear iron, or so I thought…

I searched further back and came across lab tests done by a Naturopathic Doctor on me when I was in my mid 20s.  To his credit, he ordered a full iron panel for me.  My serum iron, ferritin, and TIBC were all within the normal lab ranges.

My TS% was normal, but only a percentage point or two away from being considered elevated.  Alas, no further diagnostic workup was ordered.  The warning signs were present, however, and I was only in my 20s (when iron panel levels should be perfect… not bordering on elevated).  Additionally, my Red Blood Cell count (RBC) was elevated, which indicated hemoconcentration, or “thick blood”.

Hindsight is always 20-20, yet my lab tests are a good example of how potentially confusing iron overload lab tests can be, and how the circumstance of the person, their environment, their symptoms, and their age all factor in.