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one copy of C282Y
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Just found out my mother does not have any HH,her mayo clinic results came in..so that leaves my Dads tests to come back....so...is it possible that I may just have one copy of c282y??? and possblly just need to be de-ironed and then maybe I won't load up on iron as fast???

I copied this from mayo clinic:The gene that controls the amount of iron you absorb from food is called HFE. The HFE gene has two common mutations, C282Y and H63D. In the United States, most people with hemochromatosis have inherited two copies of C282Y one from each parent.

Inheriting just one gene with the C282Y mutation means you're a carrier. You aren't likely to develop the disease yourself, although you may absorb more iron than normal. About one in every 10 Caucasians carries one gene for hemochromatosis. If both your parents are carriers, you have a 25 percent chance of inheriting two mutated genes. Complicating things is the fact that not everyone with two copies of C282Y will experience symptoms.

A few people inherit one copy of C282Y and one of H63D. Of these, a small number develop symptoms of hemochromatosis. An even smaller number of people inherit two copies of H63D. Whether they're at risk of hereditary hemochromatosis is a matter of debate::
Posted on 01/17/09, 10:24 pm
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Reply #1 - 01/18/09  1:45pm
" Hi Singlecop,

Just to clarify- have YOU had the gene testing and do you KNOW if you carry BOTH copies of the C282Y mutation?

Also, you say your Mom doesn't have HH, but does she carry ONE gene of the C282Y mutation?

I'm not a geneticist, but what I THINK I know, is that you get one gene from each parent. You need BOTH the C282Y mutation genes to get HH. So, if you have HH, you got the bad gene from each parent. Your parents could have each been carriers (one normal gene, one mutated) or one or both carried both genes.

My husband is into geneaolgy, somewhat. His roots date back at least to the revolutionary war. For Father's Day, I ordered him a genetic test, so that he can connect with others with very close DNA.

Before we did this, he came to grips to the fact that there may be "lapses" in the lineage- perhaps adoptions, or out of wedlock issues- perhaps an unwed sister gave a brother a child to raise, stuff like that.

My husband was was OK with going forward with testing. No paternity issues have emerged. (It only tracks paternity)

So, I think you need to define all parameters of all tests, then consider outcomes and consequeces. What I am trying to gently convey, is that perhaps you want to consider any possibilities.

Not all hemochromatosis is genetic, too.

Now that gene testing is so prevalent, this type of issues are bound to appear. And I don't think we should assume all tests are 100% infallable.

I hope I was not out of bounds to suggest other possibilities. My sincere apologies if I did.

Best to you!

Janine "
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Reply #2 - 01/19/09  8:35am
" I think I am OK on that,all my brothers and sister(6 of us) undoubtedly all look alike,I just need to get all of the Medical paperwork for my mom and my dad goes for testing today,...my sister is being sent to a blood doctor because her doctor said she has it and my brother also has it,still have 3 more sisters that have not been tested yet... my sister still has her monthly cycle(she is 47) "
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Reply #3 - 01/19/09  8:37am
" do you know what is a solid full proof test I can get myself from the internet.. "
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Reply #4 - 01/20/09  7:10pm
" I used DNA for my son and I felt they were very good- $199

http://www.dnadirect.com/web/articl... "
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Reply #5 - 01/20/09  7:11pm
" OOPS! I meant DNA Direct... "
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Reply #6 - 01/21/09  8:00am
" So are you compound heterozygous then? "
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Reply #7 - 01/21/09  10:00am
" Singlecop what is your Serum Ferritin level?

Most people with HH have parents who are carriers. This means that they carry one C282Y gene. 1 out of 8 people carry this one gene.

Now if you have HH, not always, but the resounding majority of people have two copies of the C282Y gene.

The MAJOR issue here is not what genes you have, it's your iron saturation and your serum ferritin. Genetic testing is just a confirmation of the diagnosis.

Call your doctor and they will give you copies of the labwork. "
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Reply #8 - 01/23/09  4:04pm
" Hey littlebutter

My Mom and dad both got there paper results back,they do both carry one gene c282y and that is why so far my sister and myself have got both copies..I went to the Dr with her yesterday and her iron is over 500 with ferritan sat 95%..so she will be starting some blood lettings "
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Reply #9 - 01/23/09  4:05pm
" my liver does not hurt as bad as it did..I think the swelling is sarting to go down "

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