Hacking hemochromatosis: how to get your HFE gene status via 23andMe (C282Y, H63D, and S65C)

by Stephen Cobb on September 21, 2014

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If you already know about hereditary hemochromatosis and you want to find your genetic HFE status, you can skip to section 2 for the link to download our document that shows how to use raw 23andMe DNA data to check your HFE for C282Y, H36D, and S65C. If you are new to hemochromatosis, start with section 1.

1. About hereditary hemochromatosis

Sometimes referred to as HHC or simply HH, hereditary hemochromatosis is a genetic condition in which your body accumulates iron in joints and organs (also called genetic haemochromatosis in some countries and nicknamed bronze diabetes and Celtic Curse).

If untreated, HH can lead to iron overload which causes cirrhosis of the liver, diabetes, heart disease, endocrine problems, depression, impotence, and joint pain and eventual replacement. However, if detected early enough, which sometimes happens due to above normal readings on a set of tests called an iron panel, the effects of hemochromatosis can be kept at bay through supervised blood donation referred to as phlebotomy.

HH is caused by a mutation of the HFE gene that regulates the body’s iron absorption and it is the most common genetic killer in America. Roughly 1 in 10 Americans with carries at least one copy of an HFE gene mutation that may be passed on to their children. About 1 in 200 Americans have two copies of the mutation, putting them at risk of developing iron overload. Knowing your HFE status can help prevent damage from iron overload.

2. Using 23andMe to determine HFE status

I have produced a PDF document titled Using 23andMe to determine HFE status in which I describe how to use the $99 genetic testing service called 23andMe to determine your HFE status, in other words, whether or not you are at risk, or a carrier, or completely clear. You can do this despite the restrictions placed on the 23andMe service by the FDA in November of 2013.

Thankfully, 23andMe is still entirely legal* and it only costs $99 to get the genetic data you need to assess your HFE status plus a lot of other information. Of course, 23andMe is not the only way to get the genetic test for HH. You can order an HFE test here, but it is $195 and only tests HFE. With 23andMe you get access to a lot more data, including deep ancestry links.

You may  be able to persuade your doctor to order the test for you, but ironically, some doctors seem loathe to approve this test. This is particularly problematic when it comes to testing family members who might be at risk. Fortunately, if you know where to look, 23andMe reports data for three of the most common HH-causing mutations in the HFE gene, for only $99. Download the PDF document Using 23andMe to determine HFE status to learn how to find this data.

Disclaimer: This document is not an official publication of 23andMe and 23andMe had no part in preparation or dissemination of this document. This document was prepared by Stephen Cobb who is a customer of 23andMe but otherwise unrelated to 23andMe. This document is for informational use only and should not be used as a basis for medical diagnosis or treatment. Stephen Cobb is not a medical doctor. Consult your doctor for more information about hemochromatosis (and switch to a different doctor if you don’t get a satisfactory response).

 

* The only legal obstacle to 23andMe that I am aware of is the state of New York’s ban on mailing a DNA sample in that state. (Until the good folk of New York state vote out the politicians whose views on this topic have been overly influenced by campaign contributions from the medical community, I suggest simply driving across state lines to mail your sample…that’s what I did when I got the 23andMe test kit while living in New York, and I would welcome a chance to defend my actions in court…I know of no cases in which the law has been enforced…but it would be fun to demonstrate how absurd and protectionist it is.)

{ 5 comments… read them below or add one }

Christine April 29, 2015 at 11:57 am

if you have a dr who does NOT want to test your ferritin levels..find another Dr.!!
Also a lot of Dr’s are not schooled on this disease. My mom had to research it and take her findings to the Dr. He started learning a lot more about it. Standard protocol lists a higher level as acceptable than they really should. Optimal level for your ferritin is around 10.

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Mary Wier May 4, 2016 at 6:03 pm

Dear sirs my husband test neg HFE but he haf fettiitin of 90 triple from many years of 25 so he did blood donation for over a year anyway as his glucose went elevated when the ferritin hit 90 all this happened 2 years into new gluten free diet i got worried but felt the HFE neg result made him safe he had been on iron pills by his blood doctor for 5 years for anemia with the type 2 diagnosis which i stopped and i said maybe these pills raised the ferritin the blood donating got the ferritin down to 27.9 and the doctor said that is too low his glucose has come down 90 points since we take herb teas and lower iron foods i realy feel he still has something genetic his dad irish and english thank you for the blogger who mentioned 10 as a good ferritin level Sincerely Mary Wier in Chattanooga Tn my main e mail is marymurfette at epbfi dot com

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Lianne Simon August 12, 2016 at 10:59 am

Thanks for the info. 23andme has my dna sample, so I’m in wait mode.

My iron and ferritin are normal, but my TIBC is extremely low, which means my saturation is high. I’m told that HH is still a possibility, although my homocysteine is also elevated. Is MTHFR also on their list of SNPs?

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Sergey August 18, 2016 at 9:58 am

Wow ! Thank you for sharing how to use 23andme raw data. Do you know how to test other genes with 23andme raw data?

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Bob Wagstaff August 29, 2016 at 10:49 am

After more than five or more doctors, 25 years of symptoms ranging from heart palpitations to sore joints and extreme fatigue as well as two major heart tests and the suggestion that I see a therapist, I fell into the lap of a very intelligent doctor who after looking at my blood results sent me to a very intelligent hematologist.

The hematologist, after asking me my family history and lineage got a very “a-ha” look on her face when I told her my bloodline was Irish, Scottish, and English. She immediately took more blood and sent it out for genetic testing. It came back positive for hereditary hemochromatosis.

Do not take no for an answer until that genetic test comes back negative.

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