Hi Thrad, yes... having 2 matching copies does mean this. From what i have read online, some people do, and some do not have symptoms though. I too have the matching 63 type. I found out just last year, and was relieved to know why i was in such sad shape.

Your last question is a good question; and can't medically answer, but i think you're correct. It was an elevated liver enzyme level from my annual physical cholesterol check, that tipped off my doctor. That didn't confirm anything though. He called me back for a second cholesterol check (basic blood screen), to confirm the enzyme was still high a few weeks later. When that came back high again, he then pulled some more blood to run a special lab to check to the ferritin. When that was confirmed, he referred me to a blood specialist. The specialist took another round of blood, and did the same thing again to confirm the high ferritin - and get the DNA results. That's when i was "medically diagnosed", and began the plan to reduce the iron through phlebos. My symptoms matched approximately 10 of the common symptoms, and was glad to start a plan to improve my situation - although, i was agitated with life, and lack of basic medical screening overall, that allowed me to literally go downhill for nearly 5 decades before anyone told me anything about it.

The fatigue, knee pain, shortness of breath, weak heart, and several other things, including being a grouch and very unpleasant to be around - not able to control my general mood around those i loved, really were a serious problem for the last 15 years. I started offloading in Sept last year, and finished the draw down phlebos in Jan '19, and go back this week (Apr '19) for my first maintenance visit with my doctor. Once i started offloading (every 2 wks), i had the most energy and drive i have had in years! About 4 wks ago, i could tell i was beginning to experience familiar fatigue, and some mild joint pain, ... so i can't wait to see dr. on Tues. I don't plan to wait 3 months next time.

If you're experiencing symptoms, don't hesitate to start phlebos. I hated to face the fact last year that this was happening to me, but really, what's the alternative? I felt better immediately, and knew it was working for the better. Get with your hematologist in your area and make a plan; get to know those nurse phlebotomists, and let them take care of you. It was a little uncomfortable for me at first, getting used to going in to offload, just the surrounding, and the mental block, but after 2 or 3, i was smiling just being there. Can't wait to get back and offload this week.

Hope you knock this out, and seek out to make your lifestyle plan. It's irritating to me that there is not more awareness for caucasians about this blood condition, and that a screening mechanism isn't readily available. I've read so many people get into bad situations with their organ damage, and life spiraling out of control before they're properly diagnosed, and it shouldn't be that way.

Wishing the very best for you!

Hello Tnrad - I am new to this also. I found out a month ago I have one of the H63D and one of the C282Y mutations. I found out by chance on a genetic test done by a wellness firm affiliated with a large hospital system here. I just had blood draws and my ferritin is high (but not high compared to a lot of people) at 250 and my saturation is also high at 70% (>45% is high). I am in the process of being referred to a specialist, who will make a call on whether to have me do blood draws or just watch me (this is what my GP told me). So we will see what happens. How did you find out you had the gene?