At what age did you get diagnosed with iron overload / hemochromatosis?
Age 57 (Year 2008)
At what age did you start feeling symptoms?
Age 57 (Year 2008)
What were your symptoms?
I only had one symptom --- unbelievable nausea! So bad I had to quit my job. Couldn't eat anything because it was so overwhelming. I was up walking the floor at night with it for several days before I finally went to my doctor.
How did you discover you had iron overload / hemochromatosis?
My internal med doctor ordered a battery of tests and found my liver enzymes elevated to AST 324 and ALT 566. She thought it must be a mistake since I don't drink alcohol. One year prior to this, my AST/ALT were only 15/20. So she reordered the tests. Within one week AST/ALT increased to 373/724. Ran the tests again. One week later results showed 416/762. Finally, 3 weeks after I first went to PCP, she referred me to a gastroenterologist (weird) and he immediately suspected HH. He ordered the genetic test and lo-and-behold, I'm Homozygous for the H63D mutation in the HFE gene. Approximately only 1-2% of folks with HH have this mutation. On the positive side, H63D is associated with a milder, less severe and later-onset form of HH.
Initial iron panel results:
My iron/transferrin%/ferritin topped out at 175/55/2000.
Genetic results:
Homozygous (two copies) for the H63D mutation in the HFE gene.
Treatment plan?
The gastroenterologist referred me to an oncology/hematology specialist. The hematologist began therapeutic phlebotomies week. My body responded immediately. After 6 months of weekly phlebotomies, and eventually only every-other-week, all my iron levels and liver enzymes were within normal ranges. Subsequently, he recommended blood tests every 6 months for AST, ALT, and iron panel. And phlebotomies as needed. He also recommended all the usual DOs and DON'Ts regarding diet, cast iron cooking, etc. I quit cooking with cast iron, and didn't make any drastic changes to my diet or lifestyle.
How did your family, friends, and peers react when you told them you have iron overload / hemochromatosis?
No one, including me, had every heard of it. Would love to have known if any of my parents' medical issues were related to HH. Unfortunately, my parents were kind of tight-lipped about their medical stuff, so neither me or my sister ever learned much from them. My Dad was mainly of Irish descent, and Mother was primarily anglo European.
Did you continue to experience any symptoms after your diagnosis? How do you feel today?
I have been very fortunate not to have had any recurrence of excessive iron store issues. I have only had one annual phlebotomy since 2010 (and even skipped some years) without a problem. I actually got close to being anemic instead and started boosting my intake of red meat and Vitamin C. Interestingly, I have been on the Carnivore diet for the last year with no iron storage side-effects. I check my Ferritin and AST/ALT monthly watching for any warning signs. It is now 2021 and so far so good.
Do you have any tips or advice for others struggling with iron overload / hemochromatosis?
Become knowledgeable and be your own best advocate!!! There's a world of information at your fingertips on the internet. Get healthy and stay active! Take charge of your life. You only get one. ALL THE BEST to everyone living with this disorder.
Tell us some fun facts about yourself.
Retired and living an active lifestyle in North Central Florida --- Hiking, kayaking, scuba diving, beachcombing/shelling, dancing, playing billiards.