Iron Overload Diseases Association

Iron Overload Diseases Association

Hemochromatosis Diagnosis - How Do You Find Out
To diagnose hemochromatosis is an easy affair. Basically there are three tests that confirm an iron overload. First there is Transferrin Saturation (TS) or as it is called in some labs Percentage of Saturation:

Test # 1
After a 12 hour fast, measure Total Iron Binding Capacity (TIBC) and the Serum Iron (SI). To achieve the percentage of Saturation you divide the TIBC into SI..

     Serum Iron                  SI
                                        ------- = Yields Transferrin Saturation (TS)
     Total Iron Binding      TIBC          or in some labs Percentage of Saturation
      Capacity
                                            Safe range = 12-44%

Any values above this range must be considered diagnostic for hemochromatosis and should cause immediate protocol treatment. Any values far below this range may be a sign of bleeding ulcers, chronic infection or cancer. Physicians should look for the cause of anemia.

Test # 2
Using the blood from the first draw, next check the amount of storage iron - Serum Ferritin (SF)

                                          Safe range = 5-150

     A hemochromatosis patient needs to be at the lowest end of this range. We say below 10.
     This needs to be the treatment goal.

Test # 3
This next test is given less frequently. It is initialized as UIBC. It stands for unbound iron binding capacity.
Safe range is above = 146

If a patient checks below this test value, then he or she needs to be treated for their
hemochromatosis or their other iron overload condition.

While being diagnosed, do not donate blood without a doctor's permission.

If these tests measure out of safe ranges then aggressive treatment is indicated. Diagnosis without treatment is useless. The patient must be motivated to off load the iron as fast as possible. The physician should not watch these values over time or ignore them thinking they will improve on their own. Once iron is absorbed in excess it will not correct itself. Iron is not excreted. Its only exit from the body is by frequent bleeding or chelation.

Some iron overloaded patients will present with a normal saturation and still have an overload of iron.
If there is family history or symptoms or elevated ferritin over time, the patient may be involved with this problem. In this case we recommend a course of trial treatment. If the patients can tolerate the protocol, then the treatment was justified. There are safety factors built into the proper treatment that will disqualify the patient if they are not truly iron overloaded. The physician sets the hematocrit level on the prescription for the blood bank for instance. For a copy of the British "Lancet" article that explains how this might occur get in touch with our office.

Minority Populations:
The Irish are reporting a 33% carrier rate in Ireland. That is that one Irishman is three has at least
partial genetics for too much iron. In the U.S. we are reporting a carrier rate of 20% for Irish Americans. The carrier rate is also known as heterozygosity or being a heterozygote. We have information that these people with partial genetics can also express excess iron especially if they take over the counter vitamin C or multi vitamins.

African Americans too have a 20% carrier rate in the U.S. This population has a special problem
in that the main screening lab value - transferrin saturation (TS) - sometimes seems normal . This one group may need to depend on family history, symptoms or elevated serum ferritin as a diagnostic devises to determine hemochromatosis.

Treatment Confirms Diagnosis:
If protocol treatment is tolerated after 4-6 weeks without the patient's hematocrit or hemoglobin crashing, (below 30% or 10 respectively ), then that in itself is further confirmation of the hemochromatosis or the iron overload. Candidates for this approach include people with:
   Family History
   Symptoms
   At least one elevated value in one of the above three test for hemochromatosis.

Liver Biopsy:
IOD is not recommending the liver biopsy. The process is dangerous, one death in a thousand as a result. Also it was reported by Corwin Edwards MD at our 16th Symposium - San Diego 1998 - that there is a high error rate. As much as 13% of patients under going this process have not had their overload discovered. A positive in this procedure yields a grade from 1-4 but this information does not alter treatment in any way. The liver is best served by rapid reduction of iron stores. See our page on Objections to Liver Biopsy.

DNA Testing:
IOD is not recommending this testing at this time. All of the genes and mutations have not yet been discovered that might cause hemochromatosis or an iron overload. There may be as many as 13 - 17% of these mutations left unidentified. Recently a second gene, HFE2, was discovered in Switzerland. Theoretically this can appear in any population. These tests are also expensive - $200-$500 per person. And all labs do not check for all of the mutations. These labs also want to report to your doctor the results. IOD has had the experience of taking calls from people who have been disqualified from treatment when they were found free of the genetics basis or with only half genetics for hemochromatosis in spite of their iron overload. See our page on Objections to Genetics Testing at another page on this web site.

IOD
PO Box 15857
West Palm Beach, FL 33416
iod@ironoverload.org
561-586-8246

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