Blood results so far - any questions I should ask the haematologist?
Posted , 3 users are following.
So , I am particularly giving feedback to Marie and Sheryl but would be more than grateful for any input.
I had ORIGINALLY been told that I had just the one faulty gene - H63D. I was told that I would probably only be a carrier. I then had a letter asking me to visit the doctor again. I was then told that I also had one C282Y gene so am now in the compound heterozygous group.
I did as Marie suggested and asked for a print out. My serum ferritin was 84 (normal?) serum vitamin B12, 637 (should be 191-663), serum folate 12.5 - normal. I then had various Full blood count tests which looked pretty normal to a layperson such as myself. The only thing that looked raised was Basophil count.
I will be seeing a haemotologist some time soon. Are there any questions that you suggest I ask them?
Many thanks to everyone on this forum.
:-)
1 like, 4 replies
marie86421 haircrazydaisy
Posted
Your serum ferritin is within the nornal range (15-200 for females, 15-300 for males). Did you get a read out of your transferrin saturation?
When my brother had a serum ferritin test done, his reading was at the upper end of 300. My consultant did not want to see him at that stage but told me to tell him to keep an eye on it, so he now has a blood test every couple of years to see if he is loading. So far, he remains just below 300. We think it is likely that he has not inherited the FPN gene mutation.
It will be interesting to see what your haematologist says when you see him or her. You might find that you are loading very slowly or not loading at all, although your combination does have the potential to load iron.
I am not sure what questions you should ask at this point and maybe Sheryl might be able to help.
Please let us know how you get on.
Best wishes
Marie
haircrazydaisy marie86421
Posted
There was no reading for transferrin saturation so I'm presuming they didn't test it. Perhaps that should be something I ask for when I see the haemotologist, then.
I'm pretty sure I am loading because of the symptoms I already have but the normality of iron in my blood probably suggests the loading is slow at the moment.
I'll just see what he or she has to say. Hoping they'll have a good knowledge of the condition :-)
Many thanks xx
sheryl37154 haircrazydaisy
Posted
My son is compound heterozygous C282Y/H63D as well and his ferritin iron was 772 at age 22, and of course he had frequent venesections till he got to a maintenance level of every 4 months. Which he let lapse at times, and had to go back to every 3 months. His diagnosis was discovered after I was diagnosed. His father was then tested and he is homozygous H63D and he too had venesections but now after Hodgkins Lymphoma is no longer loading. They did not test TS% back then either but that was 18 yrs ago. I am homozygous C282Y, so we have the full spectrum. A good lesson in genetics!
I don't expect that you will be given venesections at this stage, but ensure you are in a program to be tested in the future. See how you are in 6-12 months. Ask for a pathology request in advance so you don't have to chase it up.
Are you still menstruating? If so, your ferritin level will probably increase when you are not. So that means drs should keep looking for what is causing your symptoms. Don't let them stop now because they have not found the answer.
Best of luck
haircrazydaisy sheryl37154
Posted
Thank you so much for all of your help and advice - it really is invaluable.