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Hemochromatosis Diagnosis

See if this sounds familiar.

Some people find out they have hemochromatosis in a nice, neat way. Their doctor runs an iron panel, then a genetic test, and a clear-cut diagnosis emerges. They are given clear instructions and an easy-to-follow treatment plan, and they move on with their lives.

But if that’s not your story, you might be wondering…why?

Is there something wrong with your doctor?

Is there something wrong with you?

If you’re like many, many, MANY people who’ve reached out to us over the decade+ we’ve been doing this work, there’s a good chance your diagnosis story is much more messy and less linear.

This is such a common concern, it’s become a big reason why people find our website and why they reach out to us for help. There’s just not a lot of resources out there talking about this very real, very common problem.

Many of you may have high iron but since you don’t have a “textbook case,” you may have been told there’s nothing wrong with you. But you still feel awful and you know there’s something not right with your body.

We made a whole video about this important topic for our Hemochromatosis Demystified course, and because we feel this subject is so important, this is one of the videos we have available to watch FOR FREE!

See if you recognize yourself in one of the three categories discussed in this video: Underdiagnosed, Misdiagnosed, or Over-diagnosed.

How is Hemochromatosis Diagnosed?

Hemochromatosis is often diagnosed by a combination of lab tests used to look at iron markers in the body and then confirmed by genetic analysis.

As an inherited condition passed down to other blood relatives, a healthcare provider may be alerted to check for this condition after another family member tests positive.

A maddening aspect of hemochromatosis is that no two individuals experience iron overload in precisely the same way. In part, this explains why so many doctors fail to consider hemochromatosis when diagnosing a patient.

Unfortunately, serum iron testing is not part of the routine bloodwork done during most annual physical exams. It is even rarer for a healthcare provider to order a ferritin or transferrin saturation blood test.

On the other hand, it is exceedingly common for a person with hemochromatosis to struggle for years or even decades without a proper diagnosis, all the while their health is seriously at risk.

Lab Tests to Diagnose Hemochromatosis

Many people start the journey toward a hemochromatosis diagnosis through a lab test to look at iron markers.

An iron panel blood test may be ordered because your doctor suspects iron overload, because you have other unusual tests such as elevated liver enzymes, or because one of your family members has been diagnosed.

A complete iron panel typically includes:

Of these tests, the most helpful in diagnosing iron overload are ferritin and transferrin saturation. Both of these are often elevated in hemochromatosis.

Genetic Tests to Diagnose Hemochromatosis

If your lab tests come back with elevated ferritin and/or transferrin saturation, the next step in diagnosing hemochromatosis is often a genetic test.

Many times doctors may not find it necessary to jump straight to the genetic testing, but if you know it runs in your family, your doctor may run the genetic analysis at the same time as the other bloodwork. Many times the genetics are only checked after abnormal numbers show up from the iron panel.

The hemochromatosis gene testing is often a blood test, but sometimes it involves swabbing the inside of your mouth to collect cells for a DNA evaluation.

Both versions of the test are looking for DNA changes to the HFE gene.

The test will look to see if you have one or two copies of any of the following genes: C282Y and H63D.

Different combinations are correlated with different levels of disease.

Making the Diagnosis of Hemochromatosis

The classic diagnosis of hemochromatosis is someone with 2 copies of the C282Y gene, elevated ferritin, and elevated transferrin saturation.

Someone with those results (plus relevant symptoms) will likely receive a diagnosis of Type 1 hereditary hemochromatosis.

The majority of hemochromatosis patients in our naturopathic practice fit this description.

However, just like many other medical conditions, not everyone fits into the textbook definition.

Many people with only one copy of the gene or with unusual lab results may still experience high iron symptoms.

Their need for taking steps to lower iron may be similar to those with a clear-cut hemochromatosis diagnosis.

Find Answers and Restore Health