The genetic disorder you've never heard of … but could be suffering from

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Noelle Hancock, a phlebotomist at Franklin Memorial Hospital, removes the needle from Dan Gray’s arm after he has his weekly pint of blood drawn at the Farmington hospital to reduce the level of iron in his body.

LIVERMORE FALLS — Dan Gray seemed fine. 

Sure, he felt a little sick once in a while. But it wasn’t a big deal. Probably food poisoning, he reasoned, even if no one else ever seemed to get sick with him. 

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It was a routine blood test during a routine exam — encouraged by his wife — that raised a red flag. His liver enzymes were up.

It can happen for any number of reasons. Medication. A virus. Hepatitis, irritable bowel syndrome or a thyroid problem.

One year and three doctors later, Gray,of Livermore Falls, found out he didn’t have any of those.

He probably hadn’t had food poisoning, either.

What Gray has is hereditary hemochromatosis, a genetic disorder that causes his body to store iron in massive amounts.

Most people with hereditary hemochromatosis have no idea they have it unless their symptoms become profound or they happen to discover it through a quirk of fate — like a wife who thought it was high time her husband got his own doctor. 

“She saved my life,” said Gray, 48. 

The treatment is, essentially, bloodletting. To prevent the buildup of iron, Gray gets a pint of blood drawn off every week. If left unchecked, the disease could have ravaged his body, damaging his liver and causing other life-threatening problems.

Hemochromatosis isn’t as common as diabetes or high cholesterol, but it’s one of the most common inherited disorders in the U.S. and Canada.

And it’s increasingly seen around here.

56,000 Mainers at high risk

Holding on to iron was probably, at one time, a good thing.

Iron is an essential part of blood, and food has historically been the only way to get it. When iron-rich food — like meat — was scarce, the body’s ability to store it was a lifesaver.

“Our body evolved to keep, to recycle, iron very well,” said Daniel Rausch, a hematologist/oncologist with Central Maine Medical Center in Lewiston. “Back when we had to kill a saber-toothed tiger to eat and half of us died when we tried to do it, we kept that iron and it was very important to keep that iron around. Obviously, not an issue these days.”

Normally, the body is good at regulating how much iron it needs to store. Those with hereditary hemochromatosis don’t regulate well, leading to a potentially life-threatening iron overload in their organs. 

About 10 percent of Americans, or more than 32 million people, carry one of the mutated genes that causes hemochromatosis, according to the National Institutes of Health.

Although one gene makes someone a carrier, most people must have two copies — one from each parent — for problems to develop. The NIH estimates that a million people in the U.S. have those two copies.

Not all of those people will develop problems, but they are at high risk.

The Iron Disorders Institute estimates that more than 56,000 people in Maine fit that category.

People of northern European decent — from Ireland and Scotland, for example — are most likely to have hereditary hemochromatosis. It’s often seen in people from other European countries, like Italy.

“There’s also a reasonable amount of French who get this,” Rausch said. “I think that’s why we end up seeing it around here.”

He has more than a dozen patients with hereditary hemochromatosis. 

“It seems to be getting a little more common, mostly because we’re identifying it better in this country,” Rausch said.

But while genetic tests make the disorder easier to pinpoint, that doesn’t mean doctors are actively looking for it. Experts say it usually takes years and multiple doctors before someone with hemochromatosis gets the right diagnosis.

“Usually somebody stumbled on it in a blood test,” Rausch said. “Mostly it’s picked up for odd reasons, like their blood counts look a little high.”

That’s what happened with Gray.

‘They didn’t know what was going on’

It was August 2015 when Gray’s wife encouraged him to get a doctor.

“My wife and daughter get regular checkups,” he said. “But I’ve just always been one of those people who pretty much only went to the emergency room when something was wrong.”

Gray felt fine, mostly, but he found a primary care doctor and went in for a physical and routine bloodwork. The exam went well, as expected. The bloodwork did not.

“They said that my liver enzymes were really elevated,” he said. “They didn’t know what was going on with that.”

That doctor was only with the practice temporarily, and she couldn’t figure out Gray’s problem before she left. The permanent doctor tried, but she, too, left the practice before she could find an answer for Gray. 

It would be a year by the time another doctor, No. 3, would come up with hereditary hemochromatosis.

“He was just looking through everything and said, ‘Ahh,'” Gray remembered. “So he had me do an iron panel and then he said, ‘If that comes back what I think it’ll come back, after that you’ll have a DNA test.”

The blood test looked at the protein that stores iron. The average man should see results between 12 and 300 nanograms per milliliter, according to the NIH.

Gray’s numbers were in the thousands.

“My iron level was just astronomical,” he said.

Last November, Gray started making weekly trips to Franklin Memorial Hospital in Farmington, where a phlebotomist takes a pint of his blood in an effort to reduce the iron in his body. It’s called therapeutic phlebotomy.

Hemochromatosis is something the Farmington lab knows well.

“We get more all the time,” said lab Director Suzanne O’Brien. “We actually have a robust therapeutic phlebotomy schedule. I’m guessing, just off the top of my head, but I want to say it’s between 50 and 60 patients we take care of.”

Two months ago, Gray’s numbers were down from about 4,000 to 1,400 nanograms per milliliter, a good sign. He’ll continue to go for weekly blood draws until his iron level drops enough that he can go maybe once a month, once every couple of months, twice a year.

“I just want to get it over with and get it out of me,” he said.

Gray estimates that he’s had more than 16 gallons of blood taken since last November.

“I didn’t know the body could produce that much,” he said.

Because there is nothing wrong with Gray’s blood — his genetic disorder can’t be contracted like a virus — he would like to be able to donate it to people in need. But the American Red Cross, the largest blood collection agency in the state, doesn’t use blood from people with hereditary hemochromatosis.

All of Gray’s blood, and likely the blood from all Maine patients with the disorder, is discarded. (See related story.)

Growing awareness

Although hereditary hemochromatosis can be found in people of all ages, — Rausch has seen patients from 20-something to late 80s — symptoms tend to show up during middle age. Women don’t usually see a problem until menopause, since monthly menstruation helps reduce iron in the same way regular blood draws do.

Fatigue is often a symptom, and one of the easiest to dismiss. Other symptoms can include joint pain, weakness, weight loss and stomach pain. In severe cases, patients can experience dizziness, hard-to-control diabetes, a bronze color to the skin and erectile dysfunction.

“I’ve seen a couple of really advanced cases of it,” Rausch said. 

If left untreated, iron buildup can damage joints and organs, leading to heart problems or heart failure, liver cancer, liver scarring or liver failure.

“It used to be thought that these people were alcoholics and they were just hiding it,” Rausch said. “It turns out they weren’t.”

Although untreated hemochromatosis can be life-threatening, the U.S. Preventive Services Task Force, an independent panel of national medical experts, advises against routine genetic testing for those who don’t have symptoms because people can have the genetic mutation without ever developing problems. However, the task force has said that people with a family connection to the disorder should be counseled about testing.

Gray, it turned out, has a family connection, even if he didn’t know it. An uncle had to submit to regular blood draws to prevent iron buildup. Forty years ago, doctors said the problem was tied to his Agent Orange exposure in Vietnam.

“Obviously, that probably wasn’t the case,” Gray said.

Immediately after his own diagnosis, Gray got his teenage daughter tested. She is a carrier but doesn’t have the two mutations that are usually needed to become sick.

Like most people who catch hemochromatosis early, Gray’s prognosis is good. Left untreated, the disorder could have killed him. Now, his life expectancy is the same as anyone without hemochromatosis.

“I want to get the message out there,” he said. “I want to get this condition out there. There are so many people that have it.”

ltice@sunjournal.com

Dan Gray’s weekly pint of blood is disposed of as hazardous waste.

“There’s also a reasonable amount of French who get this. I think that’s why we end up seeing it around here.”

— Daniel Rausch, hematologist/oncologist with Central Maine Medical Center in Lewiston

A stress ball is used to keep the blood moving when patients are having their blood drawn.

“We get more all the time. We actually have a robust therapeutic phlebotomy schedule.”

— Suzanne O’Brien, director of the Franklin Memorial hospital lab in Farmington

Dan Gray goes to the Franklin Memorial Hospital in Farmington every week to have a pint of blood drawn to reduce the level of iron in his body.

Dan Gray’s blood sits on a scale and is weighed as it is being drawn to determine when it reaches a full pint.

“I just want to get it over with and get it out of me.”

— Dan Gray, whose hereditary hemochromatosis led to high levels of iron in his liver

Dan Gray goes to the Franklin Memorial Hospital in Farmington every week to have a pint of blood drawn to reduce the level of iron in his body.

Dan Gray goes to the Franklin Memorial Hospital in Farmington every week to have a pint of blood drawn to reduce the level of iron in his body.

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