Fact Sheet : Hemochromatosis
By Adam Farley, Editorial Assistant
August / September 2013
Hereditary hemochromatosis is a disease caused by a recessive genetic mutation that makes the body absorb too much iron, resulting in excess amounts being deposited in vital organs, most commonly the liver, heart, and pancreas. Luckily, only a small number of people with the genetic mutation develop serious problems, but even so, excess iron can poison those organs, effectively “rusting” them, resulting in cancer, heart disease, diabetes, cirrhosis, and other life-threatening diseases.
Since the discovery of the mutation in 1996, hemochromatosis has been called the “Celtic Curse,” “Irish Illness,” “Scottish Sickness,” and the “British Gene” for good reasons. Research suggests that the mutation occurred in Ireland to conserve iron in the bodies of the Celts who lacked an iron-rich diet. Now that we have iron-heavy foods readily accessible, the evolutionary development has become a disease that disproportionately afflicts people with Irish, Scottish, Welsh, and British heritage, who are three times more likely to suffer from hemochromatosis.
Because it is caused by a recessive gene, hemochromatosis will only occur if both parents pass on the mutated gene. People with only one mutated gene are carriers. Among the Irish, estimates suggest that one in four are carriers. And of the roughly 34.7 million Irish Americans, about 5.6 million are carriers. Organizations like the American Hemochro-matosis Society and the Irish Haemochromatosis Association are pushing for greater awareness and testing of the disease, especially for people with Celtic ancestry.
• Family History: If you have a family history of hemochromatosis, you are more likely to have inherited the gene that causes it. You can ask your doctor about genetic tests to determine if you carry the gene mutation.
• Ethnicity: People of Northern European descent are at the greatest risk of inheriting the disease, while people of African, Asian, and Hispanic origins are much less commonly carriers of the mutated gene.
• Gender and Age: Males show signs of the disease earlier than females, leading to increased complications from its development. Because menstruation and pregnancy naturally expel iron, women are at a lesser risk of early symptoms, though after menopause the risk factor increases significantly.
Most times, signs and symptoms don’t appear until middle age—between 50 and 60 in men, and after 60 in women—and some people with hereditary hemochromatosis never exhibit signs of the disease. Unfortunately, early indicator symptoms are vague and can often
be confused with those
of other diseases. They include:
• Joint Pain
In most men with hereditary hemochromatosis, the first signs of the disease are usually from organ damage. They include:
• Joint Pain
• Diminished Libido and/or Impotence
• Heart Failure
Standard treatment involves removal of blood from the body to reduce iron to normal levels in two stages. The initial treatment schedule usually consists of taking out about a pint of blood once a week for anywhere from a few months to several years, however long it takes to drop iron levels to normal. Once that has been achieved, a maintenance schedule begins, with draws usually occurring once every several months. If, however, phlebotomy is not an option (if you have anemia or heart conditions for example), medication that causes the body to expel excess iron through urine or stool can be prescribed by a doctor.
Homeopathic lifestyle options exist, but ideally should be done in conjunction with medical treatment. They include:
• Avoiding vitamin supplements with iron
• Avoiding vitamin C supplements, which increase the body’s rate of absorption of iron
• Avoiding alcohol, which increases the risk of liver damage on top of the risk of iron poisoning
• Avoiding raw shellfish because shellfish contain bacteria that people with hereditary hemochromatosis are more susceptible to get infected by
• Drinking tannin-rich tea, which is thought to slow iron absorption
Once treatment has begun, the majority of patients see a reduction in primary symptoms and even the abatement or full-on reversal of secondary diseases caused by hereditary hemochromatosis like liver disease, heart disease, or diabetes.
Read more about the potential link between hemochromatosis and the famine in Thomas P. Duffy’s article: The Great Hunger and the Celtic Gene
Correction: A previous version of this article erroneously states that the hemochromatosis mutation first occurred in Ireland 40,000 years ago.
I have this disorder and am interested in information to keep me healthy. I have always been so proud of the fact that both my parents were 100% Irish descent. I never knew anyone in my family to have this disorder. Thank you.
JUST BEEN TOLD THAT I AM A CARRIER JUST HAD A ULTRASOUND ON MY LIVER AND SPLEEN NOW WAITING TO HAVE A LIVER BIOSPY VERY TIRED ALL THE TIME
Hello, my name is Ajoke Nurudeen. I go to St leos college in Carlow, my friend and I are planning to do Haemochromatosis for the BT young scientist. We plan to raise awareness. Make an app or a website all about haemochromatosis the symthomps, the genes, the medical cure procedures and also some case studies. And since giving blood links into haemochromatosis because its so rich in iron and we plan to link it back into donating blood to possible be eligible to win the Irish blood transfusion . So it would be really appreciated if you could tell us if anyone in the past have people done haemochromatosis for the science project for BT young scientist
Conditions indicative of low Mg. * Kidney Damage – The very small arteries in the kidneys are
damaged reducing the removal of waste and toxins from the blood.
A needle is then inserted into the chosen vein, where
a syringe or airtight vial collects enough blood for the test.
The article says the mutated gene follows a classic Mendelian Dominant/Recessive pattern of inheritance and expression. However, there is growing evidence this is not actually true. It may follow a cumulative or multiple allele pattern and there may be countering factors that mitigate expression or limit its’ impact to only certain organs or some more than others. In other ways, there may also be related genes that influence when clinically detectable signs and symptoms are presented. I am for sure a carrier. My ancestry is 100% Gaelic, mostly O names, a couple Macs back dozens of generations. My hemoglobin counts have always been maximum, off the scale, at any given age when I was tested. I was careful to marry someone not of my ancestry, an Asturian, with much lower risk for our children. They do not seem to be carriers, or are sub-threshold if it is cumulative. Take care eating excessive red meat and green leafy veretables, beets, and the like. Dulse may also give you excessive iron as may other seaweeds. Avoid raw onions, take care consuming citrus fruits and juices, and be careful with hibiscus and acerola products. There are signs a biologic medication may be helpful, nothing approved yet.
My mother was diagnosed many decades ago and finally got tested about 15 years ago. Yes, I was tested positive and extremely high. The main item that I didn’t care for (on top of a REAL dislike for needles), was that my blood was thrown away.
After moving to Minnesota about 7 years ago I found a blood service (MBC.ORG), that indeed will use my blood for others. So I would recommend doing your research and at minimum donating where people may benefit.
I hear you about the fate of the blood. Not only is it costing me $220 out of pocket for the experience at a clinic, but they throw away the blood. That’s wasteful and offensive. Seems the blood system has lined up against us in the US . . . do you know of a registry or search service that I could use to locate a site I could use in MI? The Red Cross has a blanket policy against blood donations for hemochromatosis patients.
I might be one of the strangest HH sufferer of all. I thought I was the perfect German American Jew (sixth generation.) And, then, came the news that I had the Celtic Gene and ferrtitin went to 1000; even stranger because I am heterozygous. There is an explanation, but it is complex, and applies to only a small number of folks.
I, too, was livid to discover that in MD only NIH and one other hospital (neither close to me) did not charge and the blood is thrown away. The first phlebotomy made me terribly uncomfortable as I actually saw them toss the blood in the garbage and deprive someone who needed it.
Now I just don’t look—but I can’t get it out of my head..
The Red Cross here, incredibly, won’t take the blood on the grounds that it does not pay for blood, and if it were to accept HH patients, it would be equivalent to paying us, since we are forced to pay phlebotomists otherwise.. Phew.
Mr. Salomon, although HCC afflicts (or is gifted upon) us Celts at the highest rates among our low population numbers, it also occurs among people with Norther European and Western European ancestry at significant rates. Others, too, just not at significant rates.
As a Biologist, I’m curious to find out how it was explained to you that despite being “heterozygous,” you are experiencing symptoms.I have long suspected this condition is not a simple recessive/dominant patterned situation. I intend to fund research into the patterns of inheritance before I leave this earth.
All the Best
The explanation is that the likely cause of my problem is a very active copy of the main C282Y gene,accompanied by a “private” or “family” gene. I have found articles which touch on this, but obviously more research is mandatory since the picture is cloudy (and I don’t think I’m alone in the fog.).
I hope that you will pursue your research plans, and I certainly will be glad to help you with whatever documentation you need and I can provide..
Thanks for your reply.
Thank you for your reply and your willingness to share your story and your data.Once funding is available and the researcher and other resources are in place, I’ll be back in touch.
I believe I understand the background under “active single dose gene and a family gene.” Extra-chromosomal factors likely play a role in this disease state, not only the genes themselves.Often, they are a maternal inheritance. Given what you know about your heritage, I hope that makes sense, and gives you some comfort. With the correct approach, time, and resources are on the side of HCC sufferers. Those who are carriers also can have hope.
Well I’m African American with two African American parents and j have this disease. I am homozygous for the mutation. And everytime I get a new doctor I have to be tests genetically for it because people don’t think I have it because of my race.
How mixed is your heritage possibly? A handful of African Americans do have Irish roots and you could have inherited two recessives. I found out I am a carrier, but I know I have this background.
i need help please responr
I am a direct ascendant of Grace O’Malley on my farhers side and on my mothers side bith her parebts and their parents cane here from Ireq. I have heard that you can be anemic and still have haemochromatosis!tge artical said that the excess iron may be storing, and destroying a vutal organ, aand presenting as anemia. Is this true, i want to know because i have lesions on my liver. Even with my heritage my insurance company won’t pay for generic testing.
Anemia is a deficiency of total metabolically available iron in blood. It includes both Heme and other organically bonded iron compounds and elemental or inorganic compounds. HCC is an excessive amount or iron carried on Heme, and excessive iron stored in the liver, it also can be in other tissues. A lot of the excessive iron is in the form of crystals, which can be iron bonded to organic and/or inorganic materials. It would be atypical to find an HCC sufferer having anemia, but not unknown.
I am descended from the O’Hea of Cork,the
O’Briens of Clare, the House of Tyrconnell in Donegal, and the Clan Aodha Bhuidhe O’Neill-cousins of Shane The Proud. Plenty of us have a partial or full dose of HCC, mostly the men. In old times, it meant that we could almost bleed out due to being wounded in combat and keep fighting. Today, it is not adaptive at all, and the sufferers don’t die young in combat, but survive to advanced age with a serious chronic illness. Find the best genetecist you can and the best hematologist- they can help appeal your insurance company;s decision, since this is a very serious matter. I assume you’re in the
USA- you may find an advocate through needymeds.org All the Best JPH
I am from 100 % Irish stock, Kelly and McSweeney, both from Northern Ireland. I was recently diagnosed with Genetic Hemochromatosis and stage 4 Cirrhosis.
As you can imagine, this was quite a surprise, having NEVER heard of Genetic Hemochromatosis. To make matters worse, I started bloodletting and almost immediately, I became anemic and had to stop.
I was then moved to chelation therapy, the first drug, effected my hearing, but I kept on. I wasn’t until my anemia came back with a vengeance, that I had to stop.
Now, the anemia won’t go away and my doctors are trying find a bleeder. After lots of test, nothing concrete found yet, but not being able to breathe and chest pains, is no way to go through life. Oh, did I mention that I have heart problems too.
Well, life goes on and I have faith in my doctors and faith in my Maker. It’s in His Hands anyway.
My great grandfather O’Fochertaigh used to tell me we liven then we die. What we do in between that is what distinguished us from the beasts, or reveals us as no better, it is a glimpse of our Duality. You have surely been wise in this, and are strong in Grace. Share it with the others here, many are struggling to even believe the facts. Le scriobh O’Aodha