Understanding genetic test results
Posted , 4 users are following.
My GP phoned me on Tuesday and told me my tests results are negative I do not haemo. Today I accessed my health records and noticed she has commented on the HFE tests. Normal with normal range. No action required. Reading the results it seems I am a carrier of one of the gene and she should have told me not giving me the impression everything is neg. Can anybody explain the results for me in layman terms? Thanks
C282Y mutation not detected (normal for C282Y), H63D mutation detected in heterozygous state, (carrier of H63D), CCHD genotype alone makes diagnosis of, haemochromatosis unlikely., Strong clinical/biochemical evidence of iron, overload might be due to the presence of more, unusual forms of haemochromatosis., Please let us know if further investigations are, required
1 like, 3 replies
haircrazydaisy marie13049
Posted
Doctors really don't have much of a clue. There is a really good article on the internet called H63D- the other mutation. Please try to find it - very enlightening & you might like to take a copy for your doctor's info!
ruth51315 marie13049
Posted
C282Y and H63D are the most common gene mutations, with C282Y being the gene most likely to cause iron overload. I am Homozygous H63D which means I have inherited mutant genes from both parents. Heterozygous means you have inherited one mutant gene.
There are other gene mutations besides the above so if you are having iron overload problems it might be possible that haemochromatosis is still the cause and that so far, they have just not tested you for the right mutation.
I once had a consultant gastroenterologist tell me "you can't possibly have haemochromatosis because your ferritin would more like 1000". Not loading iron does not mean that you don't have haemochromatosis. So much ignorance about this in the medical profession. The British Haemochromatosis Society will answer questions you might have.
miller.jones ruth51315
Posted
Well said.
GP don't really deal with this stuff so I can understand them not knowing which is why they should be forwarding people to Hematology or at minimum get gene testing but they don't maybe it's due to cost
The other thing is if you speak with lot of GP they will state Haemochromtosis is rare which is false it is not and research plus the data I have seen at work (I work in Hematology) shows 70+% of white people in the UK are carrying one of the genes which is why it's important to get families tested.
That 1000 number is one a lot of people use it's the point that damage happens or side effects which again is just putting everyone in the same bracket which is false (myself I had 300 until I hit 30 then it went up to 680 over 3 years)