Jul 9, 2012 - Health + Traits

Battling Against A Common Genetic Disease

It’s the most common genetic disorder in the United States, but Milo Sharp had never heard of it before.

The disorder, hemochromatosis, causes iron overload. Undiagnosed it can lead to a build up of iron in the body, particularly in the liver. This, in turn, can lead to serious health problems.

In the United States about 1 of every 300 people has hereditary hemochromatosis, but people remain largely unaware of the condition, which often has few symptoms and is hard to diagnose.

“Honestly I’d never heard of it which is kind of surprising, (because) my father is a doctor who specializes in blood,” said Milo, a 37 year-old computer programmer in Raleigh North Carolina.

Milo would have remained unaware of the lurking threat but for his wife’s interest in genetics.

“My wife decided to sign up with 23andMe, just to satisfy her curiosity,” he said.

After a little prodding from her, he also got a kit.

“Once we got our data, we found out some interesting details about our ancestry, but I found myself drawn to the health information,” Milo said.

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Still relatively young, Milo was dealing with a few health problems – sleep apnea, type 2 diabetes and high cholesterol – that taken together concerned him. Already a father of three boys, Milo’s wife was pregnant with a boy. Suddenly Milo’s long-term health became that much more important.

“I wanted to be there for my sons,” he said.

Milo saw that he was at increased risk for diabetes, which is something he already knew he had, but it was when he looked at his carrier status report that he learned something new.

“When I drilled down it was kind of surprising – I found not just one (variant) but two that put me at higher risk for hemochromatosis,” Milo said.

As he read more about the disease and how it can impact the body if untreated, Milo became concerned.

“I was worried that if I had it, it could exacerbate some of the other conditions I already had,” he said.

So he printed out a copy of his 23andMe results and took them with him the next time he saw his doctor.

“None of the doctors had ever heard of (23andMe) so not surprisingly they were pretty skeptical,” Milo said.

Hemochromatosis is typically hard to diagnose until it gets to more acute stages. But Milo explained that he carried two genetic variants that put him at a higher risk for the disease. Because of his existing conditions, Milo said he didn’t want to wait for symptoms to appear. He had additional blood tests done and one showed significantly elevated serum ferritin levels, essentially an indication of how much iron is stored in his organs.

“My (doctor) said, ‘this is something we’re going to want to look at,’” Milo said.

After working with other doctors and having a liver biopsy, Milo learned that he indeed had hemochromatosis.

“I had significant iron overload in my liver,” he said.

His liver was under stress and had internal scarring, but the condition was found early enough that there were specific treatments he could undergo to manage it.

“I can do other things like change my diet and lifestyle to improve my health and I’m working on that,” he said. “I think 23andMe may have saved my life or at least prolonged it and I want to let others know that.”

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