Can I stop wondering now? Advice please.
Posted , 4 users are following.
I am a 59 year-old female, compound heterozygous for both mutations (C282Y/H63D). The genetic testing was done (following a tip-off from an older male sibling, not because of any particular symptoms) in 2007 when I was 52 and still menstruating regularly and quite heavily. In 2007:
my serum ferritin was 41 ng/mL and
transferrin saturation was 36%.
I had a hysterectomy in 2011 and was recently tested ( at my request: no particular symptoms of iron loading but I thought it would be worthwhile checking after 3+ years of no menstruating). These recent results are:
serum ferritin 73 ug/L and
transferrin saturation is 51%. (The normal range shown for the latter is 17 - 57.)
So, I am wondering now if I can forget about all this or should I continue to keep an eye on this?
Any advice, insight would be much appreciated.
1 like, 7 replies
Helen_BA Esperance1
Posted
sheryl37154 Helen_BA
Posted
During the 9 years of whole body agony and extreme fatigue, including left side chest pain, that I suffered after having a hysterectomy, my left leg and hip was pointedly more painful and one day, when I stepped sideways it broke up. Osteonecrosis - my blood was so thick with iron it could not get into the fine capilliaries that feed the bone, so my hip bone died and broke up. 6 weeks after replacing that one, my other hip broke up. I was told to wait as long as poss before I had the surgery and after 4 yrs and being on max pain killers, I fronted up. I could not bear it any longer, even including drinking cider vinegar.
Arthritis is very common with HH, and as you were informed, it does not get better with venesections.
The first major problems with HH appear to be to get diagnosed in the first place - drs don't always request the right blood test (Iron Studies). Then to get a correct interpretation of those results. Then to get proper management of the condition. The best is to be referred to a Haemotologist. It does not mean that they know about all the complications of HH but at least you get proper venesection management.
Keep an eye on Haemochromatosis Australia in January for an online survey on experiences of diagnosis, education and management. There is currently one requesting info regarding "cost of having HH" as well. In order to increase the proper management of this condition, we need to support these surveys.
Esperance1 Helen_BA
Posted
sheryl37154 Esperance1
Posted
What is your serum iron? Is it high too? If you have not done so, ask for copies of your test results so that you can keep an eye on it yourself.
My son is heterozygous C282Y/H63D and his ferritin was 774 when he was 22. He eventually went on 4 monthly maintenance venesections but because he lapsed he has to have them at 3 monthly intervals. Everyone is different of course.
I am homozygous C282Y with a lot of organ and hip damage because dr took 9 years to diagnose, then son tested, then husband who was found to be homozygous H63D (552) but he is now no longer loading iron.
Esperance1 sheryl37154
Posted
My GP had no-actioned on my results, quite understandably given that there is nothing very abnormal there. I went and donated blood a few days ago because I had seen you recommend that to other people. ( I am rather ashamed to say that this was the first time I have ever donated blood). My plan is to donate regularly now.
My serum iron is 29.6 umol/L; the normal range given is 10.00 to 30.00
I suppose I shall just have to ask for testing every few years. (I was hoping to just forget about it, but it seems that with my genetic predisposition I shall have to be more responsible.)
Sheryl, your medical history sounds awful. I have read that 9-10 years is the mean no. of years between symptoms emerging and diagnosis.
As I said, I am pretty sure that I don't have any obvious symptoms. Sure I have some little aches and pains but no more than most of my 60ish friends.
sheryl37154 Esperance1
Posted
Esperance1 sheryl37154
Posted
Sheryl, thanks again for your advice.