hereditary hemochromatosis: Anyone else wondering why our doctors aren't do more to diagnose and treat this common genetic killer?
Americans have long had a trusting relationship with their family doctor. This is good, but I found out the hard way that blind trust can be dangerous.
This account, which is intended to save lives, tells of my encounter with an under-diagnosed genetic disorder that causes the body to absorb too much iron. It can be fatal and affects approximately one of every 250 Americans. Hereditary hemochromatosis (H.H.) is largely ignored by American family doctors to the detriment of their patients. There are some things our doctors could do to protect us, but our insurance and profit-driven healthcare system discourages it.
My story begins at my annual physicaI a few years back when I told my family doctor that I was feeling poorly. Specifically, I reported that I felt sluggish, didn’t sleep well and had some joint pain. He suggested I try to reduce stress and lose weight, always good suggestions. But that was all he had to offer except to ask if I was buckling my seatbelt? This was also a good suggestion but of course had nothing to do with my complaint. As I think back on this encounter I realize it should have been a wake-up call to be more pro-active in my healthcare.
A few years later, my brother had a medical emergency and lost a lot of blood. As he was recovering his doctor observed that his iron levels were climbing more quickly than normal. After some testing it was discovered that he had H.H. The term was new to him and his siblings, who promptly got tested. Two of the four had H.H.
Though I had been having yearly physicals, this common genetic disorder was never mentioned by my family doctor. None of my symptoms of malaise raised a red flag. I asked him, based on what my brother’s doctor did, for iron panel tests, including serum ferritin, serum iron and total iron binding capacity. The results showed why I had been feeling poorly.
Like my brother, my iron levels were sky high. For example, my ferritin was 900 plus when it should have been between 50 and 150. A subsequent genetic test revealed I was homozygous for the C282Y mutation, meaning each parent was a carrier for the mutant gene.
While most of you have probably heard of iron-poor blood, I suspect that fewer realize that having too much iron can be worse.
H. H. can lead to organ failure and death. Though the condition has been known in American medicine for decades, it flies beneath the radar of our healthcare system.
It can begin, like mine did, as a generalized feeling of malaise and lead to joint pain and in some cases bronze skin. While at least a million Americans have it, one in eight Americans are carriers, meaning they could pass it on to their offspring if their partner is also a carrier. It is substantially under-diagnosed in the U.S. despite being prevalent world-wide, especially in those of Northern European descent. It is thought to have evolved as compensation when past generations migrated to where meat was scarce.
My physician at the time I was diagnosed said it was not his practice to test for the disorder because the U.S. Preventive Health Task Force had determined testing was not cost-effective.
This is the same task force that argued younger women should not receive mammograms because of the cost.
I believe many family doctors go about their difficult duties in denial about hereditary hemochromatosis. More than one physician has told me that they don’t test for H.H. unless there is a family history. This is a red herring. How many of you are even familiar with the term hereditary hemochromatosis? The fact is, relatives who had heart or liver failure may have had H.H. and you and your family doctor would never know short of an autopsy that might suggest it.
Our family doctors should be ordering baseline iron panel testing as a way to establish family history. Complete blood counts (CBCs), which many of you get at annual physicals, don’t include iron panels specially measuring iron. A test for ferritin, by-the-way, costs about $30.
By now I hope you are wondering why American physicians aren’t doing more to protect us from H.H.? It could be poor training. It could be because the Task Force that says it’s not cost effective. Or maybe it’s because hereditary hemochromatosis isn’t a condition capturing the public’s attention such as childhood cancer; this despite H.H. being featured on an episode of the television show “House” a few years back. Insurance companies are very aware of H.H. and years ago rejected me for private insurance because of it.
The sad truth is that this condition, incurable but completely treatable if caught early, is killing Americans, who generally rely blindly on their family doctor for health guidance and in the case of H.H., aren’t getting it.
The preferred treatment for this disorder is regular therapeutic phlebotomies (bleeds) to remove the excess iron. I’ve been undergoing these every eight weeks and will have to continue for the rest of my life. Because my H.H. was caught fairly early, my life expectancy is normal.
Don’t expect to get bled at an American Red Cross blood donation center. Most Red Cross blood banks won’t accept H.H. blood. The hospital where I get my therapeutic bleeds disposes of my blood as medical waste. The Red Cross’s position is ironic in that it actually accepts quite a lot of blood from undiagnosed H.H. Patients, of which there are many. Also ironic is that once an H.H. patient’s iron levels return to normal (maintenance) this regenerated blood is the best blood for transfusions. The FDA, for decades, has allowed blood banks to use H.H. blood. Some do, but the Red Cross, for some reason, is reluctant.
While I am thankful that our family discovered the silent genetic killer lurking inside us, sadly many of you relying solely on your family doctor to protect you will not be so lucky unless these doctors start taking H.H. seriously.
Bob Holliday is a 70 year-old retired daily newspaper reporter who lives in Bloomington, Il.
301 E. Grove A2
Bloomington, Il. 61701 firstname.lastname@example.org 309-827-6579
Thanks for posting. I was diagnosed with H.H. in May and have been receiving phlebotomy every two weeks since the diagnosis. It wasn’t until I had given up all hope and on a last ditch effort decided to see a “Restorative” NP that my H.H. was finally discovered. She suspected that I might be anemic and therefore tested my iron.
I’m very fortunate as I’m young, 37, and will not likely develop any complications as a result of the H.H. Unfortunately, my symptoms related to the H.H., extreme fatigue, joint pain, and mental fog, have yet to get better. I’ve stopped eating red meat and other grains fortified with iron (I ate Cheerios every morning before the diagnosis) and I’m hoping that could help decrease the frequency of the phlebotomies and improve my symptoms.
I appreciate you advocating for people to get tested. If I hadn’t tried one last time I may have never known until it was too late.
Thanks for posting. Have a nearly identical story. Annual physical – doc says “doing fine – see you in a year”. Two nights later phone call “come back in for more blood work – your liver enzymes are way high”. Leaving out a lot of the story, after DNA testing was diagnosed with HH within about two months and began phlebotomies. After two years, getting things back to “new normal”. From recent blood work, appears liver is healing. No longer can work 18 hour days or 12 hour days or even 8 hour days. Fatigue level has to be reckoned with! Grateful my condition was caught in time. From the info you provided, you are probably familiar with irondisorders.org, Other four siblings do not seem to be afflicted. Happy for them. All the best!