Diagnosing Hemochromatosis

Hemochromatosis is a difficult disorder to diagnose for many reasons, primarily because it mimics many other diseases, disorders, and conditions. Also because it's still widely considered to be "quite rare".

Most doctors have a very limited knowledge of the condition and most of what they know or have been taught is based on outdated information. Sadly, many of them are not inclined to open their minds and look at any new information due to either workload or preconceived ideas.

Commonly, diagnosis is made after repeated tests and elimination of other diseases and conditions. Sometimes it takes months or years. This results in many patients being treated for other diseases with no positive results or clear progress. More harm is done than good. It seems to be a trial and error process, where sadly, error and lack of knowledge seems to be the predominant conclusion.

One of the key indicators shows up when they finally get around to ordering an iron or ferritin panel and they find that the ferritin levels are way out of normal range.

An iron profile or ferritin panel, isn't part of a regular check-up. It has to be specifically ordered. When ordered, one needs to be free of any infections and it should be done after fasting overnight to obtain a more accurate reading. Of major interest are the "Serum Ferritin," (SF) and "Transferrin Saturation," (TS). The Serum Ferritin
should be below 200 ng/ml for women and 300 ng/ml for men. Anything over these numbers is considered out of range.

Don't let anyone tell you that as long as your ferritin is below 1000 that you are not in danger of any organ damage. There is absolutely no evidence to support this very common and erroneous statement other than some pre-conceived biases and old teachings.

Case in point - I know many people that have been put on iron supplements that suddenly develop bathroom problems that continue until the supplement is stopped and their iron returns to normal. It's simple cause and effect that is seldom looked at or discussed. There are a group of us that have IBS like problems after our T/sat reaches a certain level on the way up.
We know what happens but none of the medical community will pay any attention to it other than to jump to conclusions and tell us we have a "Bug" that will go away in a couple of days. In other cases, if anyone in your family has ever had cancer as they will actively pursue that avenue and seen you for totally unrelated tests.

(It doesn't stop till we get our T/sat down a bit.)

Transferrin Saturation is normally between 20 and 45%. Anything over 45% is grounds for and requires
further investigation.

If both tests come back high, they should be repeated in the near future to verify the accuracy. If the levels are still high, a genetic test for abnormal HFE genes may be ordered. Regardless of the results, the cause needs to be determined and treated; not ignored because the doctor doesn't understand it or feel the need to pursue it any further.

It's not the doctor that's sick. If it was, you know they wouldn't put up with the garbage they put us through.

The "traditional"* possible positive genetic combinations are:
C282Y/C282Y - Homozygous for HFE type 1 Hemochromatosis.
This is the most common combination with severe biochemical iron overload occurring in most individuals.

C282Y/H63D - Compound Heterozygous for HFE type 1 Hemochromatosis.
Significant iron overload occurs in about 15% of these people.
In the remaining portion of the group, the iron loading is generally less severe.

H63D/H63D - Homozygous for HFE type 1 Hemochromatosis.
Iron overload is generally unusual with a lesser chance of organ damage.

("Traditional" referring to the only two abnormal genes that are tested for in North America. There is evidence that some other countries are testing for a defective S65C gene which hasn't been widely accepted at this time. There are as many as 40 genetic combinations and mutations that have been documented, but haven't been widely accepted yet either.
Rather than attempt to collaborate and get this sorted out, researchers and doctors are too busy trying to discredit each other and to refute any new findings that differ from what has been published.)

If the genetic tests return positive results, that would implicate other first degree family members that are at risk of being carriers or of having two abnormal copies of the genes and developing Hemochromatosis. Spouses should be screened so as to determine the potential risk for children or potential children.

Other possible tests that should be done to assess the risk of, or the damage to organs are:
A liver enzymes and function test. This should be followed to ensure that they are returning to normal as one is de-ironed. If they aren't returning to normal, the reason needs to be investigated as there may already be cirrhosis or other liver disease or damage present.

A liver Biopsy may be ordered to attempt to establish the extent of liver damage.
It is not a required test to establish the diagnosis of Hemochromatosis and is not useful for monitoring.
It is an invasive procedure that proves nothing other than to open another route for infection to enter the body and there are dangers associated with it.
(Most authorities don't recommend it anymore as it only gives a minute sample that doesn't accurately indicate the actual extent of loading or damage. The majority of the findings can be determined by non-invasive methods now.)

Radiological imaging of the liver is normally required as it gives a structural  picture of the liver that is useful in finding cirrhosis and other complications of the liver. The most common types are an Ultra-sound or Triphasic CT scan. Magnetic Resonance Imaging, (MRI) is making its presence known as it's capable of determining liver iron concentrations very accurately.