Please see part one of this series, "More About Hemochromatosis", for a description of hemochromatosis (iron overload).
Phlebotomy Therapy: "An Awful Bloody Business!"
Once you’re diagnosed you have your foot on the first rung of the ladder to better health. Bear in mind that there is more than one cause of iron overload, and humans are not the only creatures to be affected; recent field studies have shown that iron overload is much more common than iron deficiency in performance horses! But, if tests have shown that your problem is genetic ("inherited") never be taken in by false promises!
It’s impossible to "chelate" genes out of one’s body, and there is no cure for hemochromatosis. Treatment is ongoing, for life — and the pun is intended! But especially when detected early, a series of phlebotomies or "blood-lettings" (venesection is another term used to describe the procedure) can greatly reduce the build-up of excess iron in the body, thus alleviating many of the complications. Someone I knew very well described the procedure as an "awful bloody business" but removal of the excess iron prolongs survival, cures the cardiomyopathy and skin pigmentation, and arrests the liver damage. Diabetes may improve, but unfortunately arthropathy does not, and a malignant tumour (hepatoma) may develop even years later if the liver disease is far advanced.
What seems to drive most men to submit to bloodletting, however, is the fear of sexual dysfunction (hypogonadism is the term applied when the sex glands produce little or no hormones), but the outlook is no longer quite as gloomy as it used to be. In a paper published in the American Journal of Medicine titled "Clinical presentation of hemochromatosis: a changing scene," the authors, PC Adams, AE Kertesz, and LS Valberg of the University of Western Ontario, state that the "presenting clinical features of hemochromatosis have changed since the original description of the disease in 1935." Family studies, they say, have led to the earlier discovery of more homozygous people and earlier detection, with less iron loading, as a result of which they exhibit fewer signs and symptoms. (Remember that homozygous means that they have inherited two of the genes necessary to develop the full-blown disease.)
Most authors of recent research papers report that earlier diagnosis of hereditary hemochromatosis reveals that decrease in the prevalence of hypogonadism at the time of diagnosis, but point out that it still an important complication to be considered in all patients with the disease. This is because, with testosterone replacement, there is hope of restored sexual function.
Article comments
1 - pat dwyer
I knew my grandmother had died from heart disease due to too much iron (a few weeks after getting the diagnosis) so I always told my doctors over the years of this even though I didn't yet know the name of the condition. Finally, I got a high iron blood result and started treatment at 58 years old. It's been a year now and I'm amazed that my cholesterol went from always being around 230 down to 170 in my last test.
2 - Melinda Terblanche
Can anyone please tell me why you say it is necessary to fast before having blood tests for HH? Our doctor has never insisted on this.
3 - Jono
It is NOT "neccessary" to fast to have the test on a regular basis (dependng on what test yor referring to and what stage of treatment you're in); fasting may eleviate the odd errant high serum iron reading - particularly if you've had a nice juicy steak 8-12 hours prior.
4 - Marie Warder
The previous comment posted by 'Jono' is quite correct, although I know of physicians who require
this more frequently - especially if the patient has allowed too long a time to elapse between phlebotomies. I think what has confused you is this reference in a previous article:
* "Few are told that it is necessary to FAST before the tests are done. That it is essential for physicians to stipulate this was shown in the Utah study some years ago. In the more recent study carried out to determine iron overload in an “outpatient” population in British Columbia (S. Krikler and JC Heathcote: BC Biomedical Laboratories)" an abstract of which was presented at the Bioiron99 World Congress on Iron metabolism in Sorrento, Italy May 1999 " of the 108 subjects who had an initial elevation in saturation, 29 normalized on a fasting repeat."
5 - Jonathan Thompson
I have several family members with this disorder, and I feel sure that Ihave some of the symptoms, but all my blood tests show my hemoglobin to be normal. Can the lab possibly be misinterpreting the results?
6 - Marie Warder
Unfortunately some family doctors still request the same test for iron overload as they do for iron deficiency - mistakenly expecting that, in the case of hemochromatosis, hemoglobin levels would be elevated - whereas, in HH, they are normal. I advise you to insist on a COMPLETE iron profile. In other words, tests for serum iron concentration, percentage saturation of transferrin, and also serum ferritin concentration should be performed.
7 - Marie
Jonathan, it is possible for your hemoglobin to be normal while your iron levels are not. A test for ferrtin is part of an accurate diagnosis, not hemoglobin.
8 - lonnie s
I am 53 year old female, my daughter was dianosted with hemochromatosis. I was told to get tested...but, new to this I put it off. Well, after fighting fatique (for most of my life) and now bad hip pain and hand pain, losing hair. I had to insist on having my doctor check my iron levels, my binding was 222, tibc 32, serum 190, saturation 86, and ferritin 478, hemoglobin was normal. my colesterol was 256. I got a letter from my doctor saying that my test were normal, iron a little high and to stop taking iron supplements(I am not taking supplement) are my test normal????
9 - Bob Rogers
Lonnie s
Your transferrin saturation is very high at 86. Your ferritin is elevated (above normal). Since you daughter has been diagnosed with hemochromatosis (HHC) the accepted protocol a doctor should follow is to have "all first relatives" genetically tested for the HFE gene mutation. If your doctor will not do this test, please contact me at my office.
Bob Rogers
Executive Director
Canadian Hemochromatosis Society
[Personal contact info deleted]