Genetic snafu leaves too much iron in man’s blood

Some days, he feels a bit like the Tin Man — except where the Tin Man needs a pint of oil to pick himself up and carry on, Innisfail social worker Paul Jacques needs to lose a pint of blood.

Some days, he feels a bit like the Tin Man — except where the Tin Man needs a pint of oil to pick himself up and carry on, Innisfail social worker Paul Jacques needs to lose a pint of blood.

A little black humour is helpful for people dealing with a mystery disease that saps energy and generates pain, says Jacques, who chuckles at the potential for attracting vampires as Halloween draws near.

For him, blood tests performed about 10 years ago, after he was accidentally poked with a dirty needle unveiled the truth behind a myriad of symptoms that had gone unexplained.

Employed with the Central Alberta Aids Network, Jacques was poked while discarding needles from a person known to be infected with Hepatitis C and suspected of having HIV.

A blood panel unveiled the hidden truth: Jacques’s blood contained four times the normal volume of iron, indicating a genetic disease known as heriditary hemachromatosis (HHC), in which the body cannot metabolise iron from food.

Over time, the accumulation of iron wreaks havoc throughout the system, causing mood swings, depression, fatique, joint pain, muscle pain, abdominal pain, enlargement of the liver and jaundiced skin.

Genetic testing confirmed that the symptoms Jacques was suffering were the result of his genetic makeup: He is a homozygous carrier, meaning he has two copies of the recessive gene in his genetic code and that both of his and his wife, Tara’s children will have one copy in theirs.

While the two girls have not yet been tested for the disorder, Tara has been cleared, so while both can still be carriers, they are less likely to develop symptoms.

Jacques said on Sunday that he was grateful to be confirmed free of the suspect diseases while learning that so much of the trouble he had been experiencing can be traced to a manageable genetic disorder.

Newly diagnosed patients go through a period of de-ironizing, in which blood is drawn at regular intervals to deplete the amount of iron that has accumulated in their bodies.

Once the inititial phase is complete, individuals are put on a program of periodic bloodletting to help keep their iron levels from rising.

That’s been really good news for blood banks, because all of that extra blood can be donated for other users.The high level of “ferritin” in the purged blood is a non-issue for recipients because of the processes that are used to prepare the blood after it has been collected, said Jacques.

Most astounding to him and Tara is the high number of people in the population who could have the disease without ever being diagnosed, especially those whose ancestries trace to the United Kingdom and Northern Europe.

The incidence of HHC among the entire population is about one in 300 people, said Jacques. However, it is eight times as high among Irish, Scots and Northern Europeans, he said.

Also of note, women can have the disease for years before symptoms start to appear.

Blood purged during a woman’s monthly cycle is often sufficient to control the buildup until she reaches the age at which the cycle ends. At that point, it may be too late to reverse damage that may already have occurred during the woman’s reproductive years, said Tara.

She encourages all people who have unexplained symptoms or who fall into the more susceptible group to ask their doctors for the blood test that will reveal the levels of ferritin in their blood. Genetic testing would then confirm whether HHC is the reason those levels are elevated, she said.

Treatment should normally begin when a person is in their late teens or early adulthood.

Now that Jacques has his symptoms under control, he and Tara are developing a Central Alberta chapter of the Canadian Hemochromatosis Society.

Anyone interested in learning more is asked to visit www.toomuchiron.ca or to e-mail jacquest@shaw.ca

bkossowan@bprda.wpengine.com

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