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Haemochromatosis Society UK
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One faulty gene

Hiya, I joined this forum over a year ago when it was discovered that I carry 1 faulty gene that causes haemochromatosis. I was told I had nothing to worry about so I didn't. But I'm curious about it and Dr Google's no good! Does having only one of the genes make it ok? Any advice or information would be very helpful 😁

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What are your iron and saturation scores?

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I haven't a clue, this was told to me a year ago and was told not to worry because it's only one gene. I'm just curious to find more information about it and can't find anything decent to read up on.

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I suggest you contact the Iron Disorders Institute ( google it)

They have an email contact which will answer all ypur questions.

Good luck.

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Thankyou I will have a look.

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Which hemo gene do you have? One copy or two?

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Which hemochromatosis gene do you have? There's more than one. Are you heterozygous or homozygous? What is your ferritin level?

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Thanks for replying, I don't know the answer to any of your questions sorry. I got tested last year as I was unwell with and diagnosed with cirrhosis, most probably through alcohol. But they done checks for haemochromatosis and sent me a letter just basically saying as I only have one of the faulty genes ( didn't say wich one) then I'm fine. But to get my children tested. That's about as much info I got.

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Hemochromatosis can cause organ damage and failure due to the build up of iron in the body. Alcohol definitely can cause cirrhosis, and having hemochromatosis genes will only compound the problem. It’s a shame these doctors didn’t give you complete details and copies of your lab results.

You need to get a complete iron panel to check your values and ask for copies of your hemochromatosis gene testing results. Always get copies of all lab work. You own this personal information. Your health depends upon correctly managing any health issues you may have. If your iron panel shows high levels, you will need to see a hemotologist right away because this can be an emergency situation involving organ damage or failure.

That’s a little weird that your doctor dismissed you and your results, yet says to test your children. Each parent passes on only one copy of a gene to offspring. If you only have one copy of one of the hemochromatosis genes, this would mean that you are heterozygous and that you may or may not pass on your one copy of the gene. Your husband would have to be a carrier too and pass on a positive copy of the gene for that to be a potential problem for your children. Has your husband been tested?

On the other hand, if you have two copies of one of the hemochromatosis genes, then this makes you homozygous. Homozygous is a risk to you and greater risk of being passed down to your children, especially if your husband is also a carrier.

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Thankyou for the information yeah my gastro doctor didn't seen concerned or interested even. Thanks for the advice, I will certainly be more observant at other appointments with him and mention to him what gene it is I've got.

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There was an article on the Daily Mail online regarding haemochromatosis only this last week. They say it has been classed as a minor ailment for many years but went on to list the serious health problems if the condition is not diagnosed correctly or untreated.

It also said that many doctors don't diagnose it correctly.

The treatment is simple, taking blood to lower the iron levels, which is usually every 2 weeks until the iron levels are back down and then its only 4 times every year.

My twin sister has the illness as she has inherited it from both my parents, however i do not have the illness nor do i have the faulty genes.

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Hi there,

If your doc said you have just one gene, then you are a heterozygous and may not have many issues, but it's always advisable to keep an eye on your iron levels, particularly after menopause (sorry, don't know your age nor sex!). He asked your children to be tested because depending on where you're from, the frequency of the faulty gene may be very high (Northern Europe, for example) and the chances to marry someone with a faulty gene are high so children may be homozygous (2 faulty genes, one from each parent) and have worse symptoms.

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