IRON OVERLOAD DISEASE -- HEMOCHROMATOSIS
Mary Boudreau Conover BSNed
• Loose iron, a playground for disease — 1
• The normal — 2
• Iron overload — 2
• Prevalence — 2
• Age at first manifestation — 2
• Early subjective signs and symptoms — 3
• Blood tests — 3
• Treatment — 4
• DNA — 4
Dedicated to John, my brother, who was misdiagnosed for decades and then diagnosed
too late to recover from multiple organ damage. He lives with the ravages of this easily
controlled disease. Listen up, and take charge of your health.
This article was first posted two years ago in April. However, I have been reminded of
and "realarmed" at the extent of ignorance regarding an often misdiagnosed, easily
preventable but debilitating and even deadly disease — for the lack of two blood tests.
LOOSE IRON — A PLAYGROUND FOR DISEASE
Many of you are aware of the recent report that it was a case of undiagnosed
hemochromatosis (iron overload disease) that made it possible for genetically weakened
and otherwise safe laboratory plague bacterium to thrive and cause the sudden death in
Sept. 2009 of Dr. Malcolm Casadaban, a genetics and cell biology professor at the
University of Chicago, who, after working with the bacterium, became ill, checked into
hospital and died within hours. Lab results were positive for the plague, and the
university’s “biosafety fire alarm” was triggered.
Dr. Casadaban's liver and blood were awash and swimming with a free heavy metal —
unbound iron. Early diagnosis could have been made with an iron panel when routine
blood tests were being done, something every man over 40 and every woman after
menopause should request. How is it that a scientist with degrees from M.I.T., Harvard,
and Stanford in Biology, Genetics, and Cell Biology did not know to be tested for this
genetic disease? He may have never taken it seriously as a threat to himself. Certainly
the family care physicians don't bother with it. Why is it not a routine screening test,
especially for those of the right age with a northern European heritage?
Iron overload disease weighs heavy with the need for as many as possible to know. Most
of you at CrossFit are young; certainly from my elderly perspective that includes all of
you! The men among us won’t need to be concerned with this inherited mutated gene
until they are 40 and the females until after menopause, although in some, earlier than
that. This is important enough, common enough, and devastating enough for you to
understand it now for yourself and your loved ones. Iron overload is a destructive disease
– a sleeper that slowly compromises internal organs and joints, seducing one into
thinking ”it’s just age catching up” — until years later it has taken over, trashing hopes,
dreams and goals; family life, love-life and love of life, and finally – life itself. All for
lack of two simple diagnostic blood tests! How incredibly unacceptable!
CrossFit can build physical strength, help to keep us focused and healthy, strengthen
bones, and for some it has been shown to restore and maintain blood pressure and
cholesterol levels within normal range, but no number of life-time workouts can prevent
the progress of iron overload disease. This article would not even be necessary if there
were no treatment – no way to control it — there would be no point.
So here we go – all you never thought you wanted to know about hemochromatosis.
Iron in our diet is essential to health. Most of us absorb about 10 percent of the iron in
the foods we eat. When our iron stores are adequate, the body protects us from iron
overload by reducing the amount of iron absorbed by the intestines. However, once
absorbed, the body cannot rid itself of excess iron except through bleeding or pregnancy.
An inherited genetic mutation, called Iron Overload Disease, or Hemochromatosis,
causes loss of the body’s rigorous control over intestinal absorption of unneeded iron,
allowing it to continue to enter the blood stream from the intestines unabated. Over the
years, 5 to 20 times as much iron as normal may be stored, causing damage to major
organs such as the liver, heart, pituitary gland, thyroid gland, pancreas, joints, and the
retina (macular degeneration). In the retina, excess iron can cause retinal toxicity
through the generation of oxygen free radicals. Iron overload in the brain is seen in
people with Alzheimer's disease, early onset Parkinson's disease, epilepsy, multiple
sclerosis, and Huntington's disease.
Hemochromatosis is the most common genetic disorder in the western world. In the
United States, Europe, Australia, New Zealand and other western countries there is
approximately 1 case in 300 persons, mostly of northern European origin (British, Irish,
Dutch, German, French.)
AGE AT FIRST MANIFESTATION
The first sign of hemochromatosis may go unnoticed for decades because it requires a
blood test showing high iron blood levels that show up in men over 40 and in women
after menopause. Later, when physical symptoms of organ or joint damage begin, even
then, you will be lucky indeed to have a physician who orders an iron panel to screen for
hemochromatosis. File this for later reference and never be afraid to bring up the
possibility of iron overload; insist on the test.
My brother, to whom this article is dedicated, was diagnosed by accident. He had an
uncontrollable nosebleed that sent him to the ER. The physician stopped the nosebleed
and sent blood to the lab asking for an iron panel because of concern for the blood loss.
That was his first test ever for iron levels. They sent him home with a supply of iron
tablets to take every day. The next day they called and told him to stop taking the iron.
His serum iron levels were off the charts. He had been accumulating iron with no means
of off-loading for years. It was too late to repair the damage to his body. After decades
of concatenating symptoms and seeing many physicians, any one of whom could have
ordered a lab test for iron levels, he was finally diagnosed by accident. A scenario that is
very difficult to live with. When caught early and treated effectively, damaged organs can
heal, especially the liver, which is amazingly regenerative.
EARLY SUBJECTIVE SIGNS AND SYMPTOMS
This disease is difficult to recognize by its physical signs and symptoms because of the
number of organs and functions involved. Early signs and symptoms include:
• Joint pain (44%), including hand, wrist, knees, feet, back and neck
• Chronic Fatigue (74%)
• Impotence (45%)
• Lack of normal menstruation
• Abdominal pain
• High blood sugar levels
• Low thyroid function (hypothyroidism)
Hemochromatosis is diagnosed at any stage with two fasting blood tests. Testing is
crucial, as iron can build up to damaging levels in your body before symptoms appear.
• Transferrin Saturation %. This test is the ratio of serum iron (SI) to total iron
binding capacity (TIBC) multiplied by 100, a more useful indicator of iron status
than just iron or TIBC alone. It measures the amount of iron bound to a protein
(transferrin) that carries iron in your blood. Transferrin saturation values greater
than 45 % are considered too high.
• Serum ferritin. This test measures the amount of iron stored in your body,
(whereas serum iron measures the level of iron in your blood.) The Iron
Disorders Institute lists the normal range of Ferritin for adult males as up to 300
ng/mL and for women up to 200 ng/mL.
• Note. It is likely that you will not be told to fast for the blood draw. Remember
to do so. Additionally, for one week prior to the blood test, you should not be
taking iron supplements or vitamin C, which enhances intestinal absorption of
This is a manageable condition. Treatment involves off-loading the iron by giving blood.
If your iron panel shows elevated Ferritin and Transferrin Saturation %, your physician
will hopefully start a regimen of treatment. However, my experience has been that many
physicians are uninformed about this genetic condition. So, for your own information
and personal guidance, there are treatment and maintenance protocols on
www.irondisorders.org or www.ironoverload.org.
DNA (deoxyribonucleic acid) codes genetic information for identification and for the
transmission of diseases. If there is a family history of hemochromatosis, get a DNA test
even if you are too young to have symptoms. If you have inherited this gene mutation,
you can then be on the alert for an increase in iron levels above normal and start
treatment before it becomes a burden. A significant number of people with the genetic
mutation for hemochromatosis do not have elevated blood iron levels. They are not
symptomatic, but they are carriers, therefore their children and grandchildren should be
alerted. For the details of the genetics of inheritance, www.irondisorders.org has
Sfeir HE, Klachko DM: Hemochromatosis: Hemochromatosis, eMedicine Specialties,
July 17, 2008.
Mayo Clinic Staff. Hemochromatosis, Sept 2008. www.mayoclinic.com
He X, Hahn P, Iacovelli J, et: Iron homeostasis and toxicity in retinal degeneration. Prog
Retin Eye Res. 2007 Nov;26(6):649-73. F.M. Kirby Center for Molecular
Ophthalmology, Scheie EyeInstitute, 305 Stellar-Chance Labs, 422 Curie Boulevard,
Philadelphia, PA 19104, USA.
Loh A, Hadziahmetovic M, Dunaief JL: Iron homeostasis and eye disease. Biochim
Biophys Acta. 2008 Nov 14; [Epub ahead of print]
Wong RW, Richa DC, Hahn P, et al: Iron toxicity as a potential factor in AMD. Retina.
2007 Oct;27(8):997-1003. F. M. Kirby Center for Molecular Ophthalmology, Scheie Eye
Institute, University of Pennsylvania, Philadelphia, USA.
mc: 04/20/2009; revised 02/27/2011