Way back in 1993, I was honoured and quite overwhelmed by an invitation to attend a meeting with representatives of the World Health Organization, and thus became a member of what would later be referred to as the "First Unofficial Advisory Board on the Control and Prevention of Hemochromatosis." We met at Kyriat Anavim in Israel, and this meeting was followed by the first “BioIron" conference in Jerusalem, where experts from around the world gathered to present papers and answer questions. After this, fired with enthusiasm, I could not wait to get back to Canada and share with the Board and members of the Canadian Hemochromatosis Society all that I had learned. This would have to be postponed however, as, before I could leave the airport in Telaviv, I received bad news about a seriously ill, close relative in South Africa, and ended up in Johannesburg instead of Vancouver.

That is how it came about that the first newsletter of the International Association of Hemochromatosis Societies was written in, and circulated from, South Africa, and now, paging through a copy of that 17-year-old the document — in which I reported what I had heard Professor Laurie Powell of Australia say concerning "iron in the brain of Parkinson's patient," and the problem of its being behind the "blood-brain barrier," from where it could not be chelated — has me agonizing again and again about the snail's pace of progress.

It has long been known that iron can indeed accumulate in the brain. As far back as 1989, the late Dr. Leslie Valberg and others of the University of Western Ontario published an article on Abnormalities in Iron Metabolism in Multiple Sclerosis (Can J. Neurol.Sci, 16: 184 - 186). It is also commonly known that there is iron in the brains of Parkinson’s patients.

I have personally written reams about the effects of high iron stores on and in the brain, and this information appeared in both the IAHS newsletter in Johannesburg, and later was also published in the newsletter of the Canadian Hemochromatosis Society, in the August of 1993:

On November 21, 2009, I noted: Big news! I am drowning in emails from people advising me that, today, there is to be a special program on the Canadian CTV channel literally about “iron on the brain!” I’ve had to take my phone off the hook!

Six years after Oct. 22, 2003 when "Multiple Sclerosis Tied to Iron in Brain — Studies Point to Cause, Location of MS Brain Damage," was the heading of an article by Doctor Daniel J. DeNoon, published in WebMD Health News.

"Iron deposits deep in the brain may cause multiple sclerosis, new imaging studies suggest. ... The findings," he wrote, "come from studies of computer-assisted brain scans using a specialized magnetic imaging device," and he then went on to tell that University at Buffalo, N.Y., researchers Rohit Bakshi, MD, and colleagues were the first to use this technique.

"Multiple Sclerosis has been considered a disease of the white matter in the brain and spinal cord — the neural pathways that allow areas of gray matter to communicate with one another." But the new findings link iron deposits in the gray matter to movement and thinking impairments in Multiple Sclerosis.

"If we're going to treat this disease," Dr. Bakshi reported at the annual meeting of the American Neurological Association in San Francisco. "We have to know where the damage is," he is quoted as saying in a news release. "Traditionally, we thought MS was strictly a white-matter disease. ... We were able to visualize gray matter structures deep in the brain of MS patients and found some to be atrophied." He added that it was not yet clear that the "iron is the cause of the brain damage. It could be that dying brain cells leave a trail of iron behind."

That Blood Brain Barrier

So here I am, after watching Michael J. Fox participating in a commercial promoting the 2010 Olympics and in the closing ceremony, still ardently hoping that what I was advised to listen to last November really does lead to the ultimate breakthrough. Sadly, of course, even if the researchers do come up with a procedure for getting the iron out from behind the blood brain barrier, it could be too late for those who already have suffered organ damage, there will be hope for those who are tested and treated early enough.

It appears that, while we should normally be protected by this "barrier" that prohibits foreign substances from flowing through the walls of our capillaries into our brains, it is somehow defective in some people, and if iron is able to be stored behind it, the results can be tragic.

Now we wait for updates on the recent news to the effect that researchers in Italy are working on a procedure to "open the blocked drain," as it were. This would allow that iron-filled fluid to flow back into the bloodstream from where — after our internal organs have dealt with the processing of it — venesection (which is the "blood-letting" procedure used to de-iron patients with haemochromatosis) can do the same for those afflicted with Multiple Sclerosis and Parkinson's.

The South African Haemochromatosis Society was one of the first such Societies in the world. Largely through the pioneering work of Marie Warder, the South African Society was founded in Kimberley in 1987. The first official meeting took place at Malanshof, Gauteng and the picture below is of those who attended this meeting.

Back, left to right: Dr. Hitzeroth (Director-General of Genetic Services), Bill Robinson (National Treasurer), John Scott (National Chairman), Bobby Armour (1st registered member)

Front: Marie Warder (Founder), Ray Davis (a tireless, invaluable volunteer), Simon Overbeek (National Secretary).

How a common but little-known genetic condition allowed one man to come to terms with a family loss, and change his own life for the better.
By Karena du Plessis

At 56, Charles Scheltema is fitter than a lot of his peers. He’s just finished his sixth Cape Argus Pick n Pay Cycle Tour, crossing the line in under four-anda-half hours, and he’s feeling strong.

A keen Discovery Vitality member, he rises before dawn for a gym workout three days a week, and his job as managing director of a textile company keeps him on the go at home and abroad.

But for all his outward zest, Charles carries in his heart the weight of loss, and the legacy of a genetic disorder that is as commonplace as it is hard to detect. In 1996, Charles’ brother David died, aged only 49.

His health had been progressively failing, and it was only towards the end that he was diagnosed with a condition that attacks the organs by overloading the body with a nutrient that is otherwise essential for life.

Too little iron in your system, and you could be anaemic. Too much iron, and you may be prone to HH, which is shorthand for Hereditary
Haemochromatosis.

It’s more colloquially known as bronze diabetes, because one of its telltale symptoms is a deceptively healthy-looking tan, caused by excess deposits of iron in the skin. “David had that tan,” recalls Charles. “But he was an electrical contractor who spent a lot of time working outdoors, so no one really took any notice.”

It was only after David’s death that Charles, himself feeling constantly tired and unwell, went for testing. His iron levels were found to be much higher than normal, and further tests confirmed that he had a defective gene that can pass Hereditary Haemochromatosis from one generation to the next.

There is no known cure for the condition, but the recommended treatment is simple and effective. Regular bloodletting, or venescetion, which reduces the body’s high iron levels and allows it to manufacture new red blood cells from the excess of stored iron.

But the real key to Charles’ good health lies in the way he monitors and manages his lifestyle every day. Regular exercise and a healthy diet allow him to ward off the symptoms of his condition, with no great sacrifice beyond the restriction of such iron-heavy foods as red meat. “But when you look at the price of steak these days,” says Charles, “maybe that isn’t such a bad thing after all.”

So what are the symptoms of HH?
According to Dr Maritha Kotze, geneticist at the Faculty of Health Sciences, University of Stellenbosch, they vary from chronic fatigue and weakness to joint pain and abdominal pain, all of which explains why the condition can be difficult to recognise and diagnose.

“It’s such a tricky disease to pin down because of the wide range of conditions and the associated nonspecific symptoms,” says Kotze. “Early features
of iron overload could be the result of any number of illnesses, and are often not recognised as symptoms of HH.”

And yet, she adds, two copies of the gene mutation that cause the condition are believed to be present in around one out of every 115 Caucasian individuals in South Africa, while the carrier frequency is 1 in 6.

“The real problems start when two mutation carriers produce children. They have a one in four chance of inheriting two copies of the defective gene. Since iron overload occurs in about 40 to 60 percent of individuals with a genetic predisposition for HH, it is important that genetic testing is offered to all relatives of an HH sufferer. The risk is increased if there is a family history of cancer, liver disease, arthritis, diabetes or heart problems.”

Where testing does identify a genetic predisposition in someone with normal iron status, the good news is that regular blood donation can prevent the development of HH. “Know your genes and save your life,” says Kotze.

For Charles Scheltema, living with the condition means making the most of life, and doing what he can to spread the knowledge to others. “I was very close to David and I still feel that he died for me,” says Charles. “But now it’s up to me to stay as healthy as possible and tell other people about this disease, as it’s a lot more common than most people believe.”

*For more information on Hereditary Haemochromatosis, please visit the Haemochromatosis Society of South Africa at http://www.haemochromatosisza.org.

Article reproduced with the permission of Discovery Magazine (Winter 2008)

Presentations from recent Gauteng HSSA meetings

• Diet and Haemochromatosis
• Laboratory Diagnosis of Haemochromatosis

MEDICAL / RESEARCH REPORTS

1. Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload
2. Hereditary Haemochromatosis (HH) - Address by Prof A P Mac Phail
3. The Bronze Killer
4. Nutrition and Haemochromatosis - click on (http://www.articlemuse.com/health-and-fitness/danger-foods-for-hemochromatosis-sufferers.html