Coming to terms with hemochromatosis.
When I began researching hemochromatosis for this story, I knew only the basic facts: that hemochromatosis is a genetic condition that causes the body to store high levels of iron; that the body has no way of getting rid of that excess iron; and that, if left untreated, it can accumulate in the liver, heart, pancreas, and other organs, causing irreparable damage and sometimes death.
Unlike the other health-related stories I’ve written in the past, this one is of particular interest to me.
About five years ago, my sister was told she had hemochromatosis. At the time, I had never heard of the disease and neither had my family. My sister’s ferritin levels were high and she also had elevated serum transferrin saturation, which in non-medical terms means that her liver was storing too much iron and her body’s iron-binding capacity was also high.
While a normal ferritin result varies with gender and age, a level of more than 200 ng/ml for women and 300 ng/ml for men is considered out of range. Levels over 1000 ng/ml suggest liver damage. A normal transferrin saturation range is typically 25 to 40 percent. Anything great than 45 percent requires further investigation.
Naturally, I told my doctor about my sister’s newly diagnosed condition and he promised to keep an eye on my own ferritin levels. Beyond that, he cautioned that I would need to be genetically tested for hemochromatosis, a recessive disorder that only develops if both copies of the HFE (High Iron Fe) gene are abnormal. If only one copy is defective, a person can be free of the condition but still be a carrier.
Several weeks later, the results confirmed that I had two inherited C282Y mutations of the HFE gene, one from my father and one from my mother. Calming my nerves, my doctor reassured me that this was not the worst of the genetic diseases to be predisposed to. A simple phlebotomy treatment would be the cure for keeping my iron overload at bay.
Even though I possessed the right mutation for the disease, my body’s ferritin and saturation levels were not yet elevated enough. We agreed to wait it out. Following my physical exam in 2016, blood tests revealed that my numbers had indeed risen and it was agreed that I would begin a phlebotomy regimen, which consists of regular removal of blood.
Curious to know how it all began, I discovered that most researchers trace hemochromatosis to the Celts, with some believing that the well-traveled Vikings were the bearers of the mutation. Still others say it goes back much farther than that, but all point to an overabundance of hemochromatosis among people in Northern Europe.
Daniel Bradley, a professor of molecular population genetics at Trinity College Dublin, has been researching the origins of hemochromatosis for years. In 2011, Bradley, along with archaeologists from Queen’s University Belfast, examined the skulls of people who lived in Ireland up to 5,000 years ago and found that they had hemochromatosis.
Fast forward to 2017 Ireland. Bradley says that one in four people across the Dublin area carry the C282Y mutation. The west of Ireland has a high incidence as well, with one in five people being carriers of the gene and one in 83 predisposed to developing iron overload, according to a report from the Irish Haemochromatosis Association.
Thomas Duffy of the Yale School of Medicine has written about the connection between hemochromatosis and the Great Hunger, explaining that the very poor diet may have contributed to the gene mutation. Duffy surmised that without the gene mutation more people would have died since iron is such a critical element to the body’s functioning.
Bradley believes the prevalence of hemochromatosis among the Irish is still an open question.
“I am personally open to the idea that there may have been a selective force in favor of the disease allele in the past,” he explained. “It could have been an iron-poor diet and, if so, it is undoubtedly not the only genetic change common today that is the product of a harsher past.”
Bradley’s research has determined that diabetes, which is increasingly common in Ireland, may also be a possible consequence of Irish genomes, having been adapted to harsher times but now poorly suited to our more “plentiful present.”
On this side of the pond, Paul Adams, Chief of the Division of Gastroenterology at the University of Western Ontario, has been researching hemochromatosis since 1977.
His interest in the condition was piqued when, as a young doctor, he served as an assistant on a research study of Canadian families who demonstrated a “pattern of inheritance” for hemochromatosis. At the time, Adams said the scientific community wasn’t even sure if there was a genetic connection. Today, it is the most common genetic test performed in Canada and the United States.
According to the most recent statistics from the National Human Genome Research Institute, an estimated one million people in the U.S. have hereditary hemochromatosis.
Dealing With Hemochromatosis
Sandra Thomas, founder of the American Hemochromatosis Society based in Florida, has had her own personal experiences with the condition, which she calls the “Celtic Curse.”
Of Irish and Scottish heritage, Thomas’s mother, Josephine Bogie Thomas, died in 1999 from primary liver cancer due to hemochromatosis.
“When we first got the diagnosis, it seemed like a big, long, scary word to us,” recalls Thomas who, since her mother’s death, has been on a mission to educate the public.
“There is no reason for anyone to be ill or need an organ donation, or to die from hemochromatosis,” said Thomas. “The important thing is to know your risk and to keep track of it.”
Callers frantically reach out to Thomas with questions about what doctors they should see, the types of tests that can diagnose hemochromatosis, and the foods they should avoid.
Thomas, who advocates for a universal screening of the general population as well as genetic newborn screening, tells her callers to cut back on red meat, limit their alcohol consumption and avoid raw shellfish, as well as giving other dietary measures.
Importance of Genetic Testing
Twenty-two-year-old Deirdre Sumski (who is Irish and Polish) of Cornwall-on-Hudson, NY, was one of those recent callers. Sumski discovered she possessed two different mutations for hemochromatosis after getting results from 23andMe, the popular genetic testing company.
The University College Dublin genetics graduate said she possesses the C282Y mutation and also the H63D mutation, which makes her a compound heterozygote, another variant of the condition.
“My doctor told me not to worry about it until I reach menopause,” said Sumski, a view that is widely held among physicians since iron build-up in the body occurs slowly and women don’t have symptoms earlier in life due to loss of blood through menstruation and childbirth.
While the results of her genetic test do not confirm the existence of symptoms, Sumski is eager to talk with her doctor to get a fuller picture of her diagnosis.
Scott Weissman of Chicago Genetic Consulting explains that genetic testing is the most accurate way of discovering whether one is a carrier of hemochromatosis or is genetically disposed to it.
“Just because you test positive, however, doesn’t mean you are going to develop hemochromatosis,” Weissman said, adding that high ferritin and transferrin saturation levels in homozygote patients usually determines that they have the condition.
Depending on the severity of one’s iron overload, symptoms of hemochromatosis, which rarely appear before middle age, may include chronic fatigue, abdominal pain, arthritis, joint pain, skin pigmentation (often giving a bronze effect to the skin), cardiomyopathy and more.
Thomas, who prides herself on providing “personalized, customized advice,” said the solution is as simple as giving blood, adding that most doctors will put hemochromatosis patients on a regular phlebotomy schedule until ferritin levels and saturation percentages are at acceptable levels.
Beyond that, she is adamant about spreading awareness to the 32 million Americans she believes know nothing about hemochromatosis and their proclivity for the disease.
“We all have to die of something,” she said. “But it doesn’t have to be hemochromatosis.” ♦
If you suspect you may have a predisposition for hemochromatosis, check out the following websites or ask your physician to order an iron series profile, which usually includes the serum iron, ferritin, transferrin, and transferrin saturation tests.
- National Heart, Lung and Blood Institute
nhlbi.nih.gov/health/health-topics/topics/hemo • 301-592-8573
- Iron Disorders Institute
irondisorders.org • 1-888-565-IRON
- American Liver Foundation (includes diet recommendations for hemochromatosis)
liverfoundation.org • 1-800-GO-LIVER
- American Hemochromatosis Society, Inc.
americanhs.org • 1-888-655-IRON
- New York Blood Center Hemochromatosis Phlebotomy Program
For more information, contact Special Donors Services at 1-800-688-0900