Iron Overload Disease – Hemochromatosis
Diagnosis and Treatment

LINK: Iron Disorders Institute _ LINK: Iron Overload Org

Fact Sheet

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A Brief Listing of Possible Symptoms and Affected Organs

Fatigue, weakness, apathy, weight loss, and depression.

Heart: congestive heart failure and irregular heart rhythms.

Skin: a bronze or ashen color.

Sexual/reproductive: impotence, erectile dysfunction, low testosterone, and testicular atrophy.

Liver: hepatitis and cirrhosis.

Thryoid: hypothyroidism.

Joints: arthritis, especially in the 2nd and 3rd joint at the base of the fingers; also, knees, hips, and shoulders.

Central nervous system: dementia and neurological disease.

Further information on the course of hemochromatosis or iron overload…

1.   Undetected or untreated excess iron kills after inflicting injury to a variety of body organs.

Excess iron is damaging to every majory organ

2.   The patient’s and physician’s concern must be to detect any excess iron instead of “establishing
a diagnosis of hemochromatosis.”

3.   A complete physical must include: Total Iron Binding Capacity (TIBC) and Serum Iron (SI).
Divide the SI by TIBC for percentage of Transferrin Saturation TS.  Normal range: 12-45%.  The same blood may be used to measure Serum Ferritin.  Normal range:  5 to 150.

4.   If  TS is elevated, the individual should begin treatment.  Some literature suggests treatment when ferritin alone is elevated.  Giving blood does no harm, and instead is beneficial to health. About one-fourth of patients have iron-loading anemia (low hemoglobin).  Treatment is the same unless the anemia is so severe that blood transfusions are required.  Maintaining a hemoglobin of 10 or hematocrit of 30 percent makes the patient treatable with bloodletting.  Severely anemic patients require iron removal by an iron chelator, Desferal.  All anemic patients benefit with B complex supplements, including folic acid, B12 and B6.

5. Hemochromatosis is completely preventable.  When diagnosis is in doubt, the patient should begin a trial of  weekly phlebotomies at the blood bank.  Four to six weeks will usually provide the answer.  Getting rid of a little excess iron will only improve health.

6.   The patient should take to the blood bank a physician’s order for weekly phlebotomies.  Cutoff on hematocrit should be between 30 and 35 percent.

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7.  A liver biopsy is not always necessary, and should not be allowed to delay treatment.

8.  When iron levels test low, the cause must be found.  This can be a valuable clue to cancer, ulcer or other chronic blood loss or infection.  It’s dangerous to medicate with iron without first testing and second, finding the reason for any deficiency.

9.  DNA testing is not reasonable for diagnosis.  Labs do not test for all of the 40 mutations so far published.  Others wait to be identified.

10. Discovering excess iron without vigorous treatment is useless.  The patient’s goal is to prevent liver cancer, heart attack or stroke.  He does that by unloading storage iron as fast as possible.  Objective:  ferritin below 10.

11. All blood relatives of the patient must be evaluated and monitored yearly.

12.  A low iron diet is not recommended.  Avoid alcohol, vitamin C additives and raw seafood.  The Vibrio vulnificus in some raw seafood kills a number of people every year, usually those with undetected iron overload.

13.  Symptoms vary too much to help with diagnosis.  Chronic fatigue, arthritis, anemia (iron-loading anemia is one symptom), and elevated liver enzymes must not be ignored.  Hemoglobin level does not indicate iron status.  A disorder of thyroid or any part of the body can be a symptom of iron overload.

14.  Excess iron lowers the immune system.  Many diseases will show a poor outcome unless any excess iron is removed:  AIDs, cancer and hepatitis, for example.

15.  Iron does cross the blood brain barrier, contrary to old belief.  Excess iron stored in the brain has been found to exacerbate severity  in Alzheimer’s, MS, Lou Gehrig’s, Parkinson’s and other diseases.  Iron in the brain also leads to psychological problems.

16.  Hereditary hemochromatosis is only one of several iron-loading diseases.  But its frequency alone is one in 200 people with double mutations and 13 percent of the population with a single mutation.  Two populations have been studied that have twice this prevalence.

HEREDITARY HEMOCHROMATOSIS in Irish-Americans and African-Americans is VERY COMMON (1% with double expression of the mutations and 20% with single expression).  Iron overload is called the most common genetic disease.  Tragically, it is still under diagnosed.

17.  The goal of medicine is to provide maximum preventive care at the least expense.  Patients must be aware of iron overload for their own protection.  IOD honors the increasing number of physicians who are updating their information on iron overload.

Treatment and Maintenance

Goal of Treatment = to reduce and maintain the ferritin below 10.

The logic of the protocol treatment is to induce a mild anemia and maintain it until the storage iron is greatly reduced.

Serum ferritin is the measure of storage iron and this number needs to come down below 10.

This is accomplished by giving blood – therapeutic phlebotomies.  By phlebotomy we mean removal of a full unit of blood from the patient, approximately 500 mls.  This should be done  in a medical setting. 

The schedule of this treatment should be twice a week or at least once a week.  The patient must be motivated to off-load the iron as fast as possible.  The best outcomes are achieved by aggressive treatment.  Timid treatment does not work – these phlebotomies must be at least weekly.

The attending physician writes a prescription that tells the blood bank to remove a full unit of blood according to schedule as long as the patient has a qualifying hematocrit of 33% or more.

Some locations might prefer hemoglobin which should be set for 10 or above.   It is important to establish an anemia and not let up on it until de-ironing has been completed. This might take from 6 months to three years depending on the iron burden.

Age is never a reason to disqualify someone from treatment.  Frailty, small of stature and extremely old/young may require the adjustment in amount of blood removed, but never adjust the frequency.  This process can arrest or reverse most symptoms and return the patient to a normal lifespan.

Some patients might experience a complete reversal of all symptoms.  To exclude anyone from treatment for any reason is a death sentence.

Treatment Summary and Tips

1) Consider referral to hematologist.

2) Donate blood – FOR EACH UNIT DONATED ferritin decreases 30. So, a 10 unit blood donation would reduce ferritin by 300 (assuming no increase in iron storage between blood donation).

3) Reduce alcohol intake.

4) Iron skillets increase iron intake.

5) Decrease RED MEAT.

6) Limit Vit C.

7) Don’t eat raw shellfish (contains a bacteria that can be a problem).

8. Check family members for Hereditary Hemochromatosis.

9) Phlebotomy (donating a unit of blood) should be done every 1-2 weeks until the FERRITIN is 25-75.

10) Maintenance blood donation should then occur every 2-6 months to keep FERRITIN 25-75.

11) Blood should only be donated IF the HEMOGLOBIN is above 12.5 (you shouldn’t be anemic before giving blood).

12) Consider trial phlebotomy. Removal of >2 grams of iron without producing iron deficiency is diagnostic of non-classical HHC (Hereditary Hemochromatosis).

13) Consider GENE TESTING. Positive HFE gene test C282Y  homozygote or C282Y/H63D compound heterozygote.

Chelation: There are drugs that bind iron, but these are not a 1st line treatment

For those people who cannot be bled because of extreme anemia, there is chelation. There are two chelators for iron approved in the U.S.:  Exjade and Desferal.  This approach lacks the complete efficacy of bloodletting and should be employed only where absolutely necessary.  Declared an orphan products by the manufacturer Novartis ,  they are expensive.  A course of chelator per month $6000-$8000.  For some, Desferal is infused over night with a portable pump at home during sleep over a 12 hour period.  In some cases, the infusion pump is installed in the body of the patient.   Exjade is the newest of the two and a replacement for Desferal.  Exjade is a daily pill and with less side effects than the former.  This will off-load some iron and prolong the patients life.  Mild anemias such as the lesser thalassemia and some of the sideroblastic anemias may qualify for phlebotomy.  A physician considering chelation for a patient should consult an expert to see if their patient won’t qualify for bleeding after all.  For those patients who have tried this approach and found for some reason they could not tolerate this regimen call our office for an alternative.

Maintenance

After the patient has had their ferritin reduced below 10 they are declared de-ironed.

Now it is time to change the phlebotomy schedule.

Usually 2-6 times a year is sufficient to keep them from re-accumulating the overload.

In this process the threshold of the hematocrit/hemoglobin can be raised somewhat.  For the first year deciding how often is a matter of trial and error by the physician and patient.  Serum ferritin should be checked yearly to this end.  Maintenance will have to be a life time affair from this point on.  To permit re-accumulation is to invite a premature death.

Typical Prescription

A typical prescription should say:  This iron patient needs a therapeutic phlebotomy each week as long as he/she has a hematocrit above 36%.  Not to exceed one a week. Of course a maintenance schedule is more protracted and might read three in six months or six times in a year. The lab value for hematocrit is used as a safety factor and is set at around 36% or above at sea level.

Treatment Myths

IP-6 chelates iron. This will never work and is a waste of money.
Lactoferrin chelates iron from the body. This protein is not taken into the metabolism deep enough to do any good.  Yet this protein does protect the gut from excess iron.
Diet will reduce iron that has already been absorbed. Some have died with this approach.
Ionic-foot baths remove excess iron. The iron molecule is too large to pass through the skin.
Watchful waiting will see the ferritin reduce. Doctors risks their patients with this method.
There is no substitute for the proper protocol treatment in the face of iron overload.

Diagnosis of Iron Overload or 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: Percentage of Saturation

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..

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: Ferritin

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.

Test # 3: UIBC

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 fromnthe 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 Celtic Curse

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.

Iron and the Brain

It has been known for years that iron does cross the blood brain barrier where it is needed in trace amounts.  However, recent research has demonstrated that iron can be overloaded in the brain.  Iron in excess is toxic. The problems that this causes can range from neurological to psychological.

Half of the people in the U.S. above the age of 85 will develop Alzheimer’s disease or dementia.   Prevention is based on screening for hemochromatosis, iron overload and iron buildup in the brain.

Parkinson’s too has an iron brain involvement.  Parkinson’s is four times more common than Alzheimer’s and shows up at younger ages.  There are 16 million present sufferers.