The Blood Bank Might Save You From Our #1 Genetic Killer

By Phyllis Stewart, Editor, The Independent Community Post

Bonita/Chula Vista, California, USA

As appeared in The Independent Community Post, August 1998, http://www.icpost.com/

Chances are you've never heard of the US's most common fatal genetic disorder, hereditary hemochromatosis (HH). Unfortunately, chances are your physician hasn't heard of it either or is far behind the latest science. Most physicians will never diagnosis a case of hemochromatosis, but statistically they will see one unrecognized case in their office every ten working days.

Persons with HH absorb much more iron from foods (mainly from meat) in their small intestines than do unaffected persons. Like all metals, iron cannot be excreted by the body. It will be deposited in any handy place and stay there until the body needs it.

How many suffer from it? Statistics say that one person out of every 250 in the United States. That means that in California there are about 130,000 who are at serious risk each day they are not diagnosed. There are 700 in the city limits of Chula Vista alone.

In Ireland, the rate is much higher — one in four carries the single damaged gene and one in 64 carry the double damaged gene for HH.

Scientists believe that the genetic damage on the short arm of chromosome 6 (called HFE) originated in Ireland or the British Isles long ago. The genetic change to absorb more iron was useful as those afflicted would be better able to survive famines or long periods of meat-poor diets.

The rate of occurrence is highest among persons of Northern European heritage. The rate for Filipinos is the same as for the Northern Europeans. It is felt that Africa has iron overloading of a different cause. Little is known about mainland Orientals.

Both Australia and South Africa have high incidences of hereditary hemochromatosis due to the "founder effect." One or more of the small band of original European settlers had the genetic defect and it continues in their many descendents today.

Men have a greater difficulty with hemochromatosis in early adult life than women do. Women who menstruate must call upon iron reserves to replenish the blood supply in the body, so their conditions can be somewhat self-regulating, except before menarche and after menopause. It is thought that HH helps women during pregnancy. Many HH-affected women have reported significant problems after taking prescribed prenatal vitamins with high iron content. Physicians should never prescribe iron supplements until blood screenings have ruled out hereditary hemochromatosis.

By the time an affected man is in his twenties, the levels of iron in his blood will begin to show higher levels of iron than normal. Left untreated the iron depositing continues, peppering the thyroid, pancreas, heart, joints, skin and particularly the liver. It is believed by researchers who have studied affected twins that exactly where the iron is deposited is predetermined by DNA patterns. Some persons are so overloaded with iron that they literally set off metal detectors at airports.

In men with hemochromatosis the rate of thyroid disorders is eighty times that of normal men. It is estimated that one case of diabetes in ten is due directly as a result of hemochromatosis.

Some affected children have a very rapidly progressing form of the disease. Those with this form most often die in their twenties of heart or liver failure.

Simple, Inexpensive Diagnosis

The US Center for Disease Control (CDC) in Atlanta has recommended that every person be tested for iron overload at least once by age 18. Children of affected or carrier adults should be checked by the age of 3 years. All persons diagnosed with diabetes, liver disease, cancer, arthritis, impotence, chronic fatigue and early heart disease should be tested.

The blood tests are quite simple and usually cost about $50. Any competent lab can perform them. The necessary tests are serum iron, TIBC (total iron binding capacity), percent of iron saturation (dividing the serum iron result by the TIBC result), and serum ferritin. This series is called an "iron profile." The danger zone is a percent of saturation over 45% and a serum ferritin over 150 ng/ml. The test can be repeated in a few months to ensure that there was no underlying fever or inflammatory disease to skew results.

If a patient is overloaded with iron they should be given a genetic test. The test can be conducted on blood or from cheek swabbings with a special brush. The cost of the test runs from $125 to $175 for the first family member, an exceptionally low cost for a genetic test. Eighty-five percent of the persons with hemochromatosis have the identifiable form of (HFE mutation) genetic damage. Even if a person's genetic test is negative, if they are overloaded, they should also be treated for the disorder. Once one person is identified, every blood relative should also be immediately tested. Children and siblings of HH patients must be tested every five years. The HH community has a saying, "Find us one and we'll save a family."

Simple, Inexpensive Treatment

Possibly the most shocking aspect of HH is the treatment. Technically it is called a phlebotomy. In the Middle Ages they called it "blood-letting." It's true. Given the time frame and undoubted very high incidence of HH, those barber-surgeons who bled their patients regularly were probably saving their lives. There is an iron chelating drug, desferal, which is used for very small children and those with anemia (yes, it's more than possible). Removing blood artificially or through menstruation, gastrointestinal tract bleeding or any other cause will removing the iron stored in the tissues of the body by calling the mineral to help make more blood.

It is a very simple mechanical solution. Rather than report to the corner barber, there is a much more pleasant (not to mention, much more sanitary) place where they can take your blood… the local blood bank. Your physician writes a prescription for the course of therapy and the folks at the blood bank take your blood. According to Tony Melaragno,MD, the director San Diego Blood Bank, the cost per treatment is $57, but they cannot use the blood for donations so the blood is thrown out. It is important to note that there is nothing whatever wrong with the blood of a person with HH. HH is not a disease. But, according to current regulations the blood would have to be labeled as coming from a diseased person. Very few patients would be comforted by that label on the bag hanging above them. Sweden has used HH blood for the past 30 years with no problems and it is hoped that the US will soon stop wasting this resource.

The usual practice is to phlebotomize one pint once or twice a week until the level is reduced to below normal levels (usually a ferritin level of no more than 50). When iron stores are sufficiently depleted, a schedule of once a month or so will keep any further damage from occurring. Obviously, it is in the patient's best interest to be "de-ironed" as quickly as possible and before further or any damage occurs. Elevated iron levels are the indicator for phlebotomy treatments, not symptoms.

Interestingly it is thought that HH patients are why some treatments work and, conversely why some diseases are identified with certain risk factors. Give an aspirin a day to many and they will bleed unnoticeably into their intestinal tract. This slow blood loss helps de-iron the patient. Why don't younger women get heart disease? Doctors assume that estrogen is the protection. Could it be the monthly "phlebotomies"? Jerome Sullivan, MD believes that scientists blundered when they stated that high cholesterol caused heart attacks. As explained in an article which originally appeared in the Sunday Herald-Sun (Melbourne, Australia, 1996), his theory is that "iron may react very strongly with oxygen, producing a highly reactive molecule called a hydroxyl radical as a by-product." Since there has been no definitive link drawn between cholesterol levels and heart disease, his theory is being looked at seriously.

The recent popularity of chromium picolinate for "fat burning" and help for diabetics may have a solid foundation in fact. Chromium competes with iron for "storage space" in the cells. There are many examples of ways that our precepts about the cause of diseases need to be re-examined in the light of the evidence from the world's leading experts in this field.

The Human Cost

After spending some weeks as a member of the iron-list e-mail group on the Internet, it soon was apparent that the cost of missed diagnoses is literally incalculable. Most patients consider themselves lucky that they were diagnosed before autopsy. Physicians who have not kept up with the science of HH are a particular problem.

A registered nurse wrote, "This ignorance cost my dad his life! He died in 1991 from an acute MI (heart attack) caused by undiagnosed and untreated HH. He was the textbook case with adult onset diabetes, impotence, heart disease, male 40 to 60 years old and was he ever bronzed! I am still amazed that he was missed! Guess my HORROR when I requested his old medical records and found that his serum iron level was high on two separate occasions in 1989. Instead of recognizing the importance of these elevated iron levels the docs failed to save my dad and six others were left unchecked and went on to suffer permanent damage for eight more years!"

Doctors unaware of HH and its effects often accuse patients with cirrhosis as being alcoholics. One Canadian man wrote, "I had specialists telling me that I was an alcoholic as that could be the only reason for the test results derived from an examination of my liver." This type of problem happens frequently and adds tremendously to the burden of patients. If you are not satisfied with you physician's willingness to learn more about HH, the best way to find one who specializes is to call your local blood bank and ask which doctor is prescribing phlebotomies for HH patients. Although people, and doctors, assume that this is a disorder hematologists should treat — and some do — it is actually properly in the field of endocrinology.

The Financial Cost

As well as the human cost, there is a staggering dollar cost for the consequence of HH. Vincent Felitti, MD of the Department of Preventive Medicine at Southern California Permanente Medical Group, initiated the nation's first-ever mass screening for hereditary hemochromatosis. He is the moving force behind Kaiser's ground-breaking move. Begun in 1996 Kaiser patients having blood drawn will be given an additional once in a lifetime screening test for serum iron saturation levels. Based on that report, further testing can be done. Dr. Felitti is joining with Dr. Ernest Beutler of the Scripps Research Institute in La Jolla, and one of the world's leading experts on hemochromatosis, to test 60,000 people in their San Diego area. They are trying to find out how the genetic mutation works and to what extent the genetic test will be more useful than biochemical testing.

What is the cost? Dr. Felitti responds, "The raw marginal processing cost for the test is about $2, but that doesn't include the cost of collection, the cost of any associated medical visit, etc. Our cost of finding a case, given our penchant for doing this on a mass screening basis while doing other things (rather than as a stand-alone test), is about $1,100 per case found. As things go, that's very cheap. The testing has been going on since 1995. Since early 1997 it has been routine on 50,000 adults per year."

Dr. Felitti says that the lifetime cost of an undiagnosed case to Kaiser is an average $48,000. It is obvious that Kaiser sees the economic benefit to mass testing. He estimates that probably 30,000 homozygous cases exist nationwide within Kaiser, but fewer than 1,000 have been diagnosed.

Warning!

Don't believe those old claims of "iron-poor blood." If you are not certain of your HH status, you could be taking poison for the damage it will do you. Unless you know for certain that you do not have hereditary hemochromatosis, do not take any vitamin supplements containing iron or high doses of vitamin C. Vitamin C, particularly the popular self-dosings of 1,000 mg or more, can increase iron uptake by up to 50%. People need the normal dose of vitamin C, but no more than the recommended daily allowance. Your vitamin C should come from your food, not a pill. Interestingly, heterozygotes (who only carry one damaged gene) rarely have symptoms unless they take large doses of vitamin C. It is important that you not "pop a few thousand" when you think you're getting a cold.

It is generally recommended that HH patients stay away from raw shellfish. The germ Vibrio Vulnificus, often found in shellfish, can be particularly harmful to persons with high iron levels.

While we think of Popeye's spinach as containing wonderful stores of iron, the body uses plant iron very inefficiently, even those with HH. Neither is iron in water or ice absorbed well. The high-quality protein in red meat however, should be decreased.

What Can You Do?

The next time you visit your physician, ask if your records show that you have had an iron panel performed in the past. If not, request that a test be performed. If you have diabetes, cancer, liver trouble or any of the other symptoms of disorders HH can cause, you need to be tested as soon as possible to help prevent further possible damage if it has been caused by HH. Many physicians and their patients tend to treat the diabetes, the cardiac or the liver problems of a patient, but never put the pieces together in a holistic way to determine the cause and stop the damage.

Many people are afraid that insurance companies will drop or increase the premiums of an HH patient. None of the physicians I spoke with had ever heard of even one patient to whom that had happened. If you want to make sure that the information is kept private, ask your doctor to allow you to pay for the screening test and genetic tests, if needed, yourself and take the results home with you.

Look at your family history. If there is a history of death from heart disease at a young age not due to the usual obvious risk factors, if many in your family have had diseases which can be attributable to iron overloading, you owe it to yourself, your family, and the future generations to be tested for this condition now. Remember, the ideal is to find cases before damage is done. Otherwise, hereditary hemochromatosis is a 100% fatal disorder.

The Numbers

A devastating genetic disorder — the number-one genetic killer in the world is so common that 11 percent, one person in nine, has the damaged recessive gene. In the US more than 32 million Americans carry the single gene for hemochromatosis. Worldwide more than 24 million people are thought to carry the double genes (homozygotes) and 600 million carry the single gene (heterozygote) as "silent carriers."

So common that in the US one marriage in 64 is a union of two heterozygotes of this flawed gene. Of the four children of this couple, statistically one child will not inherit either damaged gene, one child will inherit both damaged genes and two children will carry one of the damaged genes to pass on silently to their children.

In Chula Vista the statistics say that nearly 700 people have the deadly double recessive gene combination. Scientists know that probably a million and a half persons in the United States, one in every 250 persons, have the double gene combination which will wreak havoc on their bodies and cause early death if not identified and treated in time.

The Effects

System Wide

· Chronic fatigue/weakness

· Fibromyalgia

Endocrine Glands

Pituitary:

· Impotence, loss of libido

· Infertility/sterility

· Premature menopause

· Testicular failure.

Pancreas:

· Diabetes, Types I and II

Cardiovascular System

· Enlarged heart

· Slow heart beat

· Arrhythmias

· Congestive heart failure

Blood

· Anemia

Skin

· Bronzing of the skin (a bronze, slate or gray hue)

Neuropsychiatric

· Depression

· Deafness

Infection/Malignancy

· Lowers threshold for viral hepatitis and alcoholic cirrhosis.

· Hepatoma (liver cancer)

Musculoskeletal

· Arthritis, arthralgias

Resources for Patients

Crawford, R., "The Iron Elephant," Glyndon MD: Vida Press, 1992.

American Hemochromatosis Society web page: www.americanhs.org

Iron Overload Diseases Association, 433 Westwind Drive, North Palm Beach, FL 33408-5123, Hemochromatosis Hotline: 1-561-653-7543

Resources for Physicians

"Hereditary hemochromatosis gene discovery and its implications for population-based screening", Journal of the American Medical Association, July 08, 1998

JAMA Abstracts - July 8, 1998, "Hereditary Hemochromatosis Gene Discovery and Its Implications for Population-Based Screening" AMA. 1998; 280:172-178

JAMA web site, "Tests Used to Assess Iron Status,HTTP: rr4703d.htm"target = _top special newsline http://www.ama-assn.org/special/womh/newsline/special/rr4703d.htm

"Hemochromatosis, The Disease of Iron Overload," VHS videotape, available at Southern California Permanente Medical Group

Crawford, R., "The Iron Elephant," Glyndon MD: Vida Press, 1992.

CDC Guidelines for Hemochromatosis: www.emi.net/~iron_iod/ah00008.html