Hemochromatosis – Genes involved

Check your 23andMe data to see if you are a carrier of the genes for hemochromatosis.
Check your 23andMe data to see if you are a carrier of the genes for hemochromatosis.

Hemochromatosis is a genetic disorder in which the body stores too much iron.  Normally, a person absorbs about 8 – 10% of iron that they eat, but a person with hemochromatosis can absorb up to 4 times that amount.

In classic hemochromatosis, men may start seeing problems associated with too much iron in their 30’s, while women with normal menstrual cycles may not have problems until menopause.  Initial symptoms may be memory problems, fatigue, abdominal pain, irregular heartbeat, and lack of sex drive.  These seem to be the non-specific symptoms of lots of issues, and hemochromatosis may be missed without a doctor running an iron panel.

As iron continues to accumulate in a person with hemochromatosis, there are quite a few diseases that can develop: osteoarthritis, osteoporosis, liver failure and other problems, enlarged spleen, abnormal skin color (bronzed or ashen-gray), enlarged heart, hypothyroidism, or hypogonadism.

It is easy to check your 23andMe results to see if you are a carrier of the genes for hemochromatosis.  Please note that having the genes does not mean that you will have a problem with your iron level; other things such as environment, diet, and other genes may come into play.  If you do have the polymorphisms for hemochromatosis, you should keep an eye on your iron levels and talk with your doctor.

There are two mutations that are strongly associated with hemochromatosis: HFE c282Y (rs1800562) and HFE H63D (rs1799945).  Those who are homozygous for C282Y with have A/A on rs1800562 and are at the highest risk for hemochromatosis.  A person who is homozygous for the H63D mutation will have G/G on rs1799945 and are at a risk for mild hemochromatosis.  Those who are compound heterozygous (one A on rs1800562 and one G on rs1799945) also may be affected by hemochromatosis if the polymorphisms are on separate chromosomes (i.e. one from mom, one from dad).

Check Your 23andMe results for rs1800562 (HFE C282Y).:

  • A/A: can cause hemochromatosis
  • A/G: carrier of the risk allele, also check to see if compound heterozygous with rs1799945
  • G/G: not a carrier


Check our 23andMe results for rs1799945 (HFE H63D).:

  • G/G: can cause mild hemochromatosis
  • C/G: carrier of the risk allele, also check to see if compound heterozygous with rs1800562
  • C/C: not a carrier

There are several good resources for reading more about hemochromatosis.  Please read through these and do your own research on the topic!

General disclaimer:  The information contained on this page is based my research of the topic.  I am not a doctor!  Please do talk with your doctor if you have questions or concerns.  

11 Comments on “Hemochromatosis – Genes involved

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    • I had no variants for celiac or the other one you mentioned. I cannot help but wonder if this gene caused the inflammation years ago in my gut to cause the colitis. I have read many reports that suggest it causes inflammation etc. Thank you.

      • Too much iron can cause a variety of different issues in the body (as I’m sure you’re aware of). Abdominal pain is often listed as a symptom for hemochromatosis.

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  3. RR: C282Y heterozygous

    Per Dr Eric Lewis,

    “Another important point is that we should not dismiss the impact that one single hemochromatosis gene mutation can have upon our health. Even one missense copy of C282Y can lead to a degree of iron overload in some individuals. This scenario can absolutely be an underlying cause of health challenges, symptoms, illness, or disease for a number of people.

    Many doctors, lab testing companies, books, and other websites tend to “down-play” the potential health consequences of having only one hemochromatosis gene. You may read or hear that one missense copy is not “clinically relevant”.

    To me, this seems to ignore the stories and symptoms of people whose health have been compromised by a moderate level of iron overload. Many individuals from around the world have written me and told me about their health challenges due to high iron… even though they “only” have one gene mutation.

    Likewise, I have heard numerous stories from people who did not understand their potential health risk or the implications of storing too much iron. I have seen countless cases in which individuals were told their health was fine, or that it was “all in their head”.

    Perhaps worst is when a person is told by a doctor that they have a hemochromatosis gene, but that they do not need to do anything about it, because they only have one mutation. I have even heard of stories where people were discouraged to donate blood, even a single time, even with elevated ferritin!

    My guess is that many healthcare practitioners just do not think about hemochromatosis or they may not even know about hemochromatosis.”


    • Thanks so much for the link to http://hemochromatosishelp.com/ — looks like a lot of good information on that site. It is so important to get the word out to everyone who has had genetic testing done to go ahead and check to see if they carry either of the hemochromatosis polymorphisms.

  4. My 23andme data has nothing for the above two SNPs. Are they blocking us now from seeing this data?

  5. I have done a lot of research on hemochromatosis. My mom died from it. I have the h63d. Went through 23 and me. My dr just kind of dismissed any risk for me. Even though he did iron panel. My ferritin was 232 but other ranges were just barely normal range. I do have colitis issues so I know inflammation could play part in the ferritin. But, I have many ailments that are symptoms. He says I’m not at risk and not even to worry about donating blood and, no need for another iron test. He said my hemoglobin needed to be checked yearly. So, I know one gene carriers can load iron. I am waiting to donate blood when a blood bank comes through. Thank you.

    • Hi Elizabeth –
      Thanks for posting this — it is a great reminder to everyone that even a carrier of just one of the risk alleles can start building up iron.
      Giving blood is a great way to prevent more damage from iron in your joints and organs. I hope that you feel better after donating. I know several people (heterozygous) who feel great after donating blood — plus you’re doing a good deed for someone else.

    • The lab ranges are ridiculous .. too high! Optional values below:
      Iron Opt=100
      TIBC Opt=285
      Transferrin Opt=300)
      Sat % Opt=25-30
      Ferritin Opt=~20

      Your ferritin at 232 is way too high. What do the rest of the iron panel labs look like? Begin donating blood now. I’ve been donating since Aug 2016 about every 56 days and iron still too high! I’m getting there, though. I do have several Gene’s that can contribute to this, including C282Y.

      Iron 138 ug/dl (Opt=100)
      TIBC 385 (Opt=285)
      Transferrin 300 (Opt=300) !!!
      Sat % 36 (Opt=25-30)
      Ferritin 31 (Opt=~20)

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