Do You Have an Iron Bomb Ticking in You?

Understanding Your Risks of Having Hereditary Hemochromatosis

I love my Irish heritage. I feel special sharing my heritage with the great Irish poets, writers, and musicians. Ireland is the land of leprechauns, fairies, and St. Patrick.

But being of Irish heritage (according to Ancestry.com, I am 92% Irish, 6% Scottish, and 2% other), I now find out that I am one of a significant number of people with a common monogenetic disorder called Hereditary Hemochromatosis (spelled haemochromatosis in the British Isles).

June 1-7 each year is World Hemochromatosis Awareness Week. This is a time to reach out and help people become aware of their risk for a serious disorder that is totally treatable.

Hereditary Hemochromatosis (HH) is an autosomal recessive disorder. It results in your body over-absorbing iron, leading to an overload situation that will damage your organs. Autosomal means that it occurs equally as often in males as in females. The recessive part means you must receive a copy of the gene from each of your parents to have the disorder. If you have only one gene, you are a carrier. Usually, that means you will not have any problems with the condition. But according to Haemochromatosis.org.uk, carriers are at a slight risk of also experiencing iron overload.

Symptoms begin to show up between 30 and 60 years of age. Healthcare providers frequently overlook HH due to the vagueness of symptoms. The symptoms are blamed on other illnesses instead.

Common  symptoms include:

• Unexplained chronic weakness or fatigue
• Abdominal pain
• Diminished sex drive or impotence
• Chest pain or shortness of breath
• Pain in joints early on
• Arthritis, particularly if it occurs in the first- and second-hand knuckles or/and the ankles
• Diabetes
• Liver disorders (cirrhosis or cancer)
• Discoloration of or bronzing of the skin
• Osteoporosis
• Mood swings and irritability

• Abnormal heart rhythm

• Abnormal liver function tests (LFTs)

What are the chances that you are an HH carrier or have the complete disorder (called homozygous)?

It is known in Ireland that one person in five is a carrier, and one person in 83  has the disorder. In the United States and many other countries, one person in 300 has the disorder.

Therefore, if you have Irish ancestry, it would be wise to ask your healthcare provider to do some screening. The testing would consist of the following:

• Elevated serum ferritin
• Elevated transferrin percent saturation
• Elevated serum Iron
• Low or normal total iron binding capacity
• Abnormal liver function tests (LFTs)

If these tests are abnormal, your healthcare provider will order an HFE test which checks for the mutations in HH. The most common one is C282Y.

If you don’t have Irish ancestry, you are also at a higher risk if you have ancestry from the following countries:

• England
• Scotland
• Wales
• France
• Norway
• Denmark

These countries interacted with each other for centuries, with the latter two being part of the Viking expeditions and raids.

HH is diagnosed in other countries at higher rates if there were large migrations of people from these countries. Examples of this are the United States and Australia.

Are you curious about your future if you do have HH?

If you haven’t already had significant organ damage, you will likely live an expected lifespan if you do one or more of the following things:

• Have regular phlebotomies to keep your iron stores down. That means that on a regular schedule, you have blood removed, much like a standard blood donation. The difference is if you need these blood removals more often than every eight weeks, you can’t use the Red Cross (with a few exceptions, as noted on the Red Cross site for Therapeutic Apheresis services. Right now, 22 states offer this service, most with only one site per state. With blood withdrawals more often than every 56 days, you must go to your local hospital or clinic for the procedure.
• If you can’t handle blood draws, there is the possibility of receiving chelation therapy. This process removes iron from the organ stores and releases the iron through the urine. Chelation therapy for iron overload can take the form of a tablet or an injection.
• You can help keep your body’s iron stores down by watching what you eat. Iron is absorbed more readily from animals such as beef, poultry, and fish. Iron found in plants is absorbed less.
• Exercise helps by excreting iron in one’s sweat. Exercise also increases inflammation in the body. This inflammation leads to the formation of hepcidin which is a hormone in the liver that blocks iron absorption.
• Avoid taking iron supplements, multivitamins with added iron, and vitamin C supplements which increase the body’s iron absorption.

The good news is that even if you are homozygous (have both genes) for HH, you may never have any problems. Studies show that almost 30% of males will have organ damage. For women, who have had the benefit of menstrual cycles for approximately 40 years, the risk is down to 1-2%.

However, it is essential to know so you and your healthcare provider (and your relatives who may also be at risk) check and follow up regularly to ensure you keep your iron under control.