Guest Blogger; Kolleen Cole
Sometimes even our best health care providers fall into the trap of making a diagnosis on what a symptom “usually” indicates, rather than looking further. Hereditary Hemochromatosis diagnosis can be tricky this way.
A few years after menopause, my annual lab results where showing a condition called macrocytosis. This is when the red blood cells are immature, and larger than normal. The leading cause of this is a vitamin B-12 deﬁciency, so both the respected Naturopathic Doctor and the Nurse Practitioner I was seeing prescribed B-12 injections, even though my serum B-12 was normal (I always have taken B-12 supplements). Their theory was that the quality of the vitamins I was taking sublingually was just not good enough, and that the injectable form would be superior. OK, this made sense. But it did not correct the macrocytosis completely, nor the fact that my WBC count was often just slightly depressed. Neither of these readings gave cause for alarm in an otherwise healthy, vegan woman.
Then a couple of years later, a new DEXA (Bone Density) scan showed I had osteopenia in both hips! Just two years earlier my bone density was fantastic! What was going on?
Fortunately, my new doctor sent me to a hematologist who checked things not normally done in routine lab work. And what he found was that I have a genetic disease called Hereditary Hemochromatosis – (also called iron overload), caused from having two copies of the C283Y mutation in the HFE gene. This was causing my intestines to absorb way more iron than needed, which if left untreated, can lead to very serious diseases, including liver, heart, and pancreas disease, diabetes, depression, arthritis, and osteoporosis, and others. Fortunately, I was eating whole food, plant-based, or things could have been much worse.
The only “treatment” for Hereditary Hemochromotosis is to have regular phlebotomies, and to be eating a whole food, plant-based diet! For the hemochromatosis patient maintaining iron balance is a life-long effort—timely blood donation is their “drug”. Serum Ferritin and Phlebotomy Frequency: In most cases the serum ferritin will drop by about 30ng/mL with each full unit of blood removed.
Heme & Non-Heme Iron
The iron found in plant foods is called non-heme iron, and is perfectly safe. It is the heme iron, found in all animals, that must be avoided. People of European descent, especially of Celtic, English or Scandinavian backgrounds, are at the highest risk. In fact, 10% are carriers of the C282Y mutation, and roughly one in 300 has HFE-related hemochromatosis.
Yet not everyone who carries two copies of the mutation will have symptoms or any problems. My hematologist had me talk to a nutritionist, who said I was doing all I could by being vegan on a whole food plant based diet. She also recommended taking no more than 500mg per day of vitamin C and to not drink alcohol, since both increase iron absorption. Many people with this condition need to have phlebotomies on a regular basis, even as often as every other month. Due to not eating ﬂesh, eggs, or dairy products, I have not needed to have blood drained in over a year! My time will be coming soon, since as our bodies break down old cells iron is released, but I am happy to be able to put it off as long as possible!
Everyone: please watch for symptoms or irregularities in your labs. Men often start having Hereditary Hemochromatosis problems at a much younger age than women, since menstruation reduces the amount of iron. But after menopause, women are in just as much danger. If this disease is caught early, we can expect to live a normal lifespan.
Kolleen Cole, RDH, BS