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Het vs homo, and family genetics
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If you have the inherited form of HH (particularly in the C282Y gene), are you homozygous or heterozygous? How about the rest of your family, and your children? My husband was just tested and came up het. His doctor said he was "just a carrier" and didn't need to worry about developing symptoms. I know that's not always true, as my father is het and he developed the disease in his 50s. Are there others here who are heterozygous C282Y and symptomatic?

Also, I'm wondering about the genetics for our children. I am homo, so I know my kids are at least carriers because the mutation was all I had to give them. Now that we know my husband carries one copy, my "genetics for dummies" page tells me that our children have a 50% chance of being homo (and thus at much greater risk of developing HH). My genetics counselor said they do not test minors for any diseases they are not likely to contract until adulthood. How has this played out in your family? Do you have kids, and do you wonder about their genetics?
Posted on 05/06/13, 04:25 pm
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Reply #1 - 05/07/13  2:49am
" yup...same scenario. Will get back to you soon. Very late here where I live and would love to expound on this further with you.

Take care, C "
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Reply #2 - 05/07/13  1:32pm
" That would be great!

To add to the weirdness, my brother just emailed me with his test results, and he came back negative for C282Y but with one copy of H63D! Which means that one of my parents is a compound heterozygote. Now I'm wondering if that's my dad, because it might explain why he had more severe manifestation as just a hetero. I believe when he was tested, they only tested for C282Y. This gene stuff is fascinating. "
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Reply #3 - 05/07/13  8:53pm
" What are your genes? What is your mother? Your father's? Your brother is H63D. You are?

Having two copies of H63D means you are homozygous H63D. Having 2 copies of C282Y means you are homozygous C282Y. Having one copy EACH of C282Y and H63D means you are compound heterozygous. Having one copy of EITHER C282Y or H63D means heterozygous.

Your brother is heterozygous H63D. You are?
Your father is/was?
Your mother is/was?

Your comments are not quite clear on who has what and who is still alive, etc. Would like to have some more info to get to bottom of this for you.

C "
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Reply #4 - 05/07/13  10:54pm
" I am homozygous C282Y. My parents were both tested heterozygous C282Y, but they were not tested for other mutations like H63D (Kaiser, in our area at least, only tests for C282Y). My brother just found out he is heterozygous for H63D and negative for C282Y. Which means, if I'm reading my simplistic Punnet square correctly, that one of my parents must be a compound C282Y/H63D heterozygote, and one must be just hetero C282Y.

Both of my parents are still alive. My dad was diagnosed with clinical manifestations of HH more than 10 years ago and is in maintenance now. My mother has normal iron levels. That's why I mentioned that it seems more likely to me that it is my dad who is the compound heterozygote, since I've read they have a higher likelihood of developing HH than a simple het C282Y.
Sorry if it was unclear, and I realize that that whole aside about my brother and the H63D was kind of just muddying the whole story -- I just found it really interesting when I heard that today.

That's my family history. In my original post, I was talking about my husband and my children (my husband is het C282Y). I just wondered how other families had handled the genetic issue - if they pushed for testing if there was a high possibility of homozygous C282Y, or just tested iron levels every few years, or did nothing. I'm reading more and more stories of people diagnosed with high levels as early as 20, and I want to make sure my children stay healthy. I also want to make sure my husband is healthy, and while his doctor said he is not at risk if he is only het, I know that is not always true. "
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Reply #5 - 05/08/13  12:36am
" Pepper, u r right about everything you say, so yes kids 50% homo probability.

You should still be able to get a "full" (3 varient) genetic test where u live, just ask your doc to send to another lab (most doctors have at least 2 labs) Else use an online one as Pandamamma says, 23andme will test for loads of extra conditions also for about the same price if u r paying. (note: most labs test for 2 genes, it seems)

testing kids is normally only done when they are in late teens as the vast majority of people will not develop any iron loading before that, but get them tested before if it puts your mind at rest (kids can give "spit" instead of blood now).

i wasn't going to test my kids until teens but now with 23andme offering all their tests (incl. family history) for $100 I will do it as soon as youngest is old enough to supply a spit sample!!! (though under a fake name so the insurance companies can't screw us!!) "
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Reply #6 - 05/08/13  11:01am
" Pepp. My kids/adults, finally got tested. they are all carriers, as is my sister. My Mom had it but we don't know what type etc. I am homozy...
and am symptomatic. It was a load of sorts off my mind that the kids aren't blessed with the real magilla.

be well DC "
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Reply #7 - 05/08/13  5:22pm
" Thanks for the input!
I've been interested in doing 23andme, but a little hesitant. It sounds silly but maybe I don't want to know that much about myself! Haha. I didn't know I could have my kids tested through them, but I might look into it just for peace of mind. My older daughter is 15, so only a few years before she can get tested on her own through our insurance, but my little one has many years to go. "
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Reply #8 - 05/11/13  4:58pm
" Well, that fills in a few blanks. Thanks. My husband is a compound heterozygous. I am a heterozygous C282Y. All his kids will be carriers of one of the genes for sure of one of the two, and the two kids we have togather have the chance of having the double gene as well. Maybe compound hetero or homozygous C282Y. I too am frustrated with not being able to test them through medical, but I am going to get the iron levels tested. My one son especially is quite ill all the time and complains a lot about joint pain, in knees, ankles, fingers, like in his index finger first knuckle. I know there are also underlying conditions and genetics that make it so that some kids will load iron more quickly even when younger. I would raher know sooner in his case as his symptoms are frequent. His infections he also gets as well as chronic bronchial issues and gets everything going makes me more suspicious. I also understand that iron levels do not have to be high in order to cause damage or problems. Just simply by genetics alone is this an issue in many people. For example, they have linked the H63D to Alzheimer's and other disorders as well.

I have not really pursued the DNA aspect yet with them, but I would like to know at some point for curiosity and peace of mind. If children seem healthy and no major issues are evident, then at young age they need extra iron for proper growth and body health, so unless it comes back elevated beyond healthy levels for the age, I will likely not get the DNA test done. Blood tests first.

Thanks for sharing your history. We had some surprises genetically as well when other family members got there DNA tested.

C "

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