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Check your DNA for Hemochromatosis and related Genetic conditions
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This is version 3.5 of CheckIron. Hemochromatosis can cause iron overload and then severe organ damage. Our mission is to enable iron overload prevention by informing the risks early enough for someone to take appropriate preventative action. Hemochromatosis causes inflammation and we're now looking at many other genetic diseases which also cause inflammation as well as including all variants of Hemochromatosis. We now attempt to predict when someone with your genetics will suffer the iron overload symptoms caused by these mutations (experimental approximation as early days in data collection)- we hope this helps with prevention of iron overload of you, or at least, your relatives and children.
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Upload your raw DNA data

Upload your raw DNA Data from AncestryDNA, 23andMe, MyHeritage, Family Tree DNA, or Nebula

We're supporting all of the popular DNA analysers (more than shown). We now also support Nebula as the first whole genome analysers but the other whole genome analysers are not supported as they have a less useful format. For whole genome the VCF file must be compressed and we prefer compressed for the others.

We currently support the raw DNA data from the following providers:

  • Ancestry.com: upload the zipped text file downloaded from Ancestry.com (see Ancestry.com FAQ for more information). We do NOT support Ancestry Next Gen Sequencing VCF format yet - please do not upload these files - even if we did then you'd find the txt file works better and provides more information for now.
  • Family Tree DNA: download the 'Build 37 Raw Data Concatenated' GZIP archive from Family Tree DNA and upload it here (see Family Tree DNA FAQ for more information).
  • MyHeritage DNA: upload the CSV file downloaded from MyHeritage DNA (see MyHeritage DNA FAQ for details).
  • 23andMe: upload the zipped text file downloaded from 23andMe. How to get your raw genetic data: login and then go to 23andMe raw data download page and request your raw data.
  • Nebula: upload the fullgenome VCF gz file downloaded from Nebula.org. We do not support uncompressed files - only the original gz files. How to get your raw genetic data: login and then click results and on the top line you'll see a button saying "Download your data" and then choose VCF - you should do this on a PC because the file is large at ~300MB. You must upload the compressed gz file to checkiron.

You can upload your data only in archived/compressed format and NOT the uncompressed VCF file. The files are quite large so please be patient as it uploads to our server - click OK button to agree the terms to start uploading.


This software is new and experimental. We are attempting to look for a subset of the mutations involved in Genetic Haemochromatosis. We may have made mistakes, and may have excluded a mutation which is highly significant. We are not medically trained and have not been advised by a medical professional. You use this information at your own risk and should get advice from a qualified medical professional. The raw data from the DNA analysers also has disclaimers as to its quality and we pass these disclaimers on to you. By clicking Browse below you are accepting these flaws and weaknesses in the data we will be presenting to you. We do store this data anonymously on our servers unless you choose to delete it. NB If you have a choice of suppplier we do not recommend "23andMe" as the mutations we are looking for not properly supported - so 23andMe will give you an incomplete picture.
Browse and Upload…

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FAQ

FAQs

None of the below should be considered medical advice - we are describing the questions people ask about this site. Always consult a qualified medical professional.

  • How do I delete my data?We'd prefer the data is not deleted because we use it to teach the system how to calculate the "age at symptoms". However, you do have the "Right to be Forgotten" and this function is present in the system but a bit hidden away. To delete your data please follow this instructions.
    1) On the results page click Checkiron-home menu option (if you've left the system, then re-upload your data and let it process to get to the results page)
    2) Then scroll down until you see Results. Scroll further and you'll see "Privacy function- right to be forgotten". Under that is the delete button
    3) Press the delete button and all record of your visit original data and results will be deleted, including any information you've provided.
    4) If you get an error saying "incorrect session" its because you've tried to delete the data more than 30 mins after it was processed. To resolve this you must reload your data, let it process, and then click checkiron-home and find the delete button again. This will then work - this is the only way we can check its you deleting your own data.
  • Why have you created this site?. We are an iron overload prevention site. We want to increase awareness of the most common genetic disorder (Hemchromatosis Type 1) for people of Northern European descent, which can over years cause iron overload in the organs and eventually organ damage. In the US there are 4.2M people with this genetic disorder and many could die of organ damage before they are diagnosed. Hemochromatosis is easily and safely treated for most people, if caught before organ damage has occurred. But we believe prevention is even more important, if the 4.2M people who have the genes are aware of it in early life, then simple lifestyle changes (eg doing blood donation and small diet changes) early in life would mean that a person might never need any treatment at any stage in life. This site will tell people their risks and allow them to choose if they think simple lifestyle changes will work.
  • What are the lifestyle changes. If you go on a Hemochromatosis forum you may see people saying it does not matter what you eat because you just get a phlebotomy (or venescetion for UK people) to treat it. This may be correct advice is you are fully loaded with iron but we believe that in some cases prevention is possible before anyone gets fully loaded. So we would suggest all people at risk (ie with the mutations but do not suffer from symptoms) use lifestyle changes early enough that they less likely to get excessive iron in their organs. This would involve being a regular blood donor and avoiding fortified foods such as breakfast cereals, avoiding taking vitamin C supplement, drinking milk when eating a steak and avoiding offel based foods such as sausages or black pudding. NB clearly all people are different and some will need treatment, if the lifestyle changes are insufficient. All people with this condition will need regular medical checkups to ensure iron levels are within the safe limits and some will need to resort to Plebotomies (venesections in the UK).
  • What are differences between CheckIron V1, V2.2, V3, V3.1 and V3.5. In CheckIron V1 we looked at just 18 mutations for HH Type 1. V2 expands this to 139 mutations and includes the rarer forms of Hemochromatosis Types 1-5. In July 2020 in V2.2 we introduced the effect of the difference between men and women too. One of our goals is to use DNA to predict when someone will overload iron - this of course is fraught with problems becasue we are ignoring effects of what people eat and other related conditions. In V2.x we create an Age at Symptoms estimate currently using only the HH Type 1 data. This data is an estimate and inevtiably wrong, but if you provide feedback we hope to improve on it over time and use all the input data we have. In April 2021 we released V3 which has 28 inflammatory diseases and 960 mutations. We also now allow each disease to compare with the average uploader of data - this can help because some V2 and V3 had a completely new way of displaying the results using graphs and text and in V3 we added loading speed indicators. In V3.1 we increased add the gene JAK2 to Polycythemia and added ALS as another inflammatory disease. In 3.5 we added support for Nebula Whole Genome data, we added support for Inflammatory Heart Diseases and added Hemolytic Anemia, beta-thalassemia Anaemia and Sideroblastic Anemia to the Anemia section.
  • What do you do with my data?. We're very much concerned about your privacy. We do not ask you to register and do not know who you are. We do store the DNA data you give us and ask the optional questions about symptoms and diagnosis because we are trying to spot patterns between the main mutations causing the disorder and other genes which modify the rate at which you get iron overload. We do use the data you give us into Research for Hemochromatosis, but the data will never be shared in full. Certain very fully anonymised even from our internal anonymised data small (so small, that there is insufficient information to identify anyone) subsets (to prove a scientific feature) may be shared for the purpose of publishing science papers. If you really are concerned about us storing your data, we provide a delete button - please follow the instructions in the first FAQ above. If you click this all your data and results are deleted forever.
  • If I have the mutations do I have the disorder?. Many people say "No, not necessarily" in answer to this question, but it is more correct to say you have it but you may not suffer the symptoms in normal lifetime. The most common mutation causing Iron Overload disorder is the homozygous C282Y mutations (ie having 2xC282Y). If you have this pair of gene mutations you will have lower hepcidin production than people without it. However, the effect of the lower hepcidin differs between individuals and other genes controlling the absorption and transport of the iron to the organs also have an effect and these modifiers can make a massive difference to how old you are when the iron has built up enough to cause damage. Also lifestyle (what you eat and whether you are menstruating and/or a blood donor) also make massive differences.
  • How do you calculate the analysis results. A DNA file from the current suppliers will typically contain about 600-700K DNA SNPs details and from Nebula there are 3.5B DNA SNPs. We are currently looking at just 960 of these which pertain to Hemochromotosis Types 1-5 plus other inflammatory genetic diseases and the production of proteins which control the absorbtion and transport of iron in its various formats. We then tell you which Hemochromatosis related SNPs you have and give you the SNPedia relevant text associated with those SNPs. We are not a diagnosis site, we do provide some description of the mutations you have based round increased or decreased risk or comparison with the average person who has submitted data. We may well increase the number of SNPs we look at as we learn more from this research. Experimentally we do calculate the "age at symptoms" using only the DNA data - this is NOT accurate but is an indication of your risks. We do find currently that for many people it will only be a few years out and for a small number it can be as much as 30 years out. We believe the 30 years out group is due to a missing ingredient which could be lifestyle or another disease we have yet to consider. Note also there can be many more mutations of a gene than we analyse because if a mutation has no reported effect we do not include it in the analysis - it is important to point this out as it seems some analysis sites do include every known mutation in which case we find some people get concerned about a mutation which has no effect.
  • Which DNA supplier has the highest accuracy. For the non-whole genome suppliers, accuracy is actually the wrong word but "coverage" is a better measure. All the current DNA suppliers cover slightly different SNPs and we've done the following analysis specifically for Hemochromatosis (HH) mutations, associated iron metabolism genes and associated inflammation mutations. The important HH Type 1 mutations are C282Y, H63D and S65C - these are the gatekeepers to the Hepcidin Defiency which causes HH Type1. If you have one or more of these mutations then you load iron according to which one(s) and then other iron metabolism mutations. We are now looking at 960 mutations in total and the results are shown in the table below where we measure them by disease type. One thing we have notice is that data from FTDNA and Ancestry in 2017 and before did not cover the Hemochromatosis mutations at all. It appears during 2018 (still to find exact dates) both started to include all 3 Type 1 mutations whereas 23andMe only had and continues to have 2 of the mutations
  • What do you mean by coverage. In V2.x we looked at just 139 SNPs and in V3 960 SNPs in the hundreds of thousands of SNPs in the data files and we now look for evidence of a Y-chromosome to determine if the person is male or female- only Ancestry and 23andMe suppliers support this feature and for the other suppliers we assume the person is a man. Each supplier has support for different sets of SNPs. We have now added support for Whole Genome Sequencing (WGS) from Nenula in V3.5-theortically coverage is 100% for these but the format we use to read you data does not support that measurement so its not reported in the results.
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Result

Result

You will need to wait the upload time PLUS 5-10 minutes to process. This is where your result will appear. There is no result yet.

Please Wait

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When the result is displayed you will see a list of diseases. This does not mean you have any of these diseases it just means you are at some risk of getting these diseases.

We don't provide a diagnosis or medical advice or any advice whatsoever. We search your data for certain iron related SNPs with the same Alleles that you have and then show you the SNPedia text associated with the found SNP/Allele combination. We then go on to tell you what other people with that combination of search results have done next. This is not advice, it is information which should be discussed with your doctor.






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About US

About Us


The author of this site discovered he had Hemochromotosis Type 1 when he did a DNA test with Ancestry.com. He is infact homozygous C282Y. The information received, subsequent medical diagnosis and treatment has literally prolonged his life and he wants others to have that same opportunity. This knowledge could help 3 million people in the US and 700,000 people in the UK as well as other descendents of Northern Europeans in other parts of the world such as Australia, New Zealand and South Africa.


We provide this free and for us loss making service because we believe prevention is better than a cure (and 90% of Hemochromatosis die before they are diagnosed) and we hope this goes partially to helping in prevention. We do not ask for donations because we are concerned that one of the Hemochromatosis charities is persistently demanding money and at best not using their significant funding efficiently whilst providing some incorrect information and advice. Iron Overload due to Genetic issues is often preventable and if the person with the gene mutations knows about it then simple lifestyle adjustments (such as donating blood, phlebotomy/venesection and/or changing diet) can be made to prevent the deadly affects of iron, if these lifestyle changes are possible. So this website is more for the friends and relatives of diagnosed Hemochromatosis suffers than themselves directly. Let's jointly ensure that our friends and relatives do not suffer Hemochromatosis by informing them so they can make changes to their life. The sooner a person knows the risks the more effective lifestyle changes will be. NB clearly all people are different and some will need treatment if the lifestyle changes are insufficient. All people with this condition will need regular medical checkups to ensure iron levels are within the safe limits and some will need to resort to Plebotomies (venesections in the UK).


Additionally since the 1940s the US and UK governments have enforced a law to mandatorily add iron to flour, bread and cakes because of concerns about Anemia (iron deficiency Anemia should be treated by a doctor using known doses). Additionally most breakfast cereals have had iron added. Iron has a recommended maximum daily dose but it also has a lifetime maximum dose as it accumulates in all people and especially those with Hemochromatosis. For all people pure iron in food has been found to damage the gut microbiome. For these reasons the author of this site has started a campaign to stop the addition of iron to food, although this campaign has now timed out. Iron is an essential nutrient but we believe that indiscriminently dosing a whole populations where the end result for 1 in 100 of them is early death is patently wrong even it is means aenemic people will need to get treated by their doctor by taking iron supplements.

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Contact

Got any comments or questions?

Email:
robin@alibro.co.uk and CheckIron Facebook Group
We'd love to hear opinions from experts in the field on which genes we are considering. We clearly are looking at C282Y, S65C and H63D but it's the other modifiers of the speed at which is ferritin is created and absorbed which are of interest. So we're interested in the genes which affect ferritin, hepcidin, transferrin and ferroportin. We now also looking at other diseases which also cause inflammation because once someone has inflammation it is not possible to say which disease is causing the symptoms and often (and in particular with carriers) we believe it is multiple inflammatory diseases which cause the bad symptoms. Let us know if we're missing something.

We strongly believe that prevention of iron overload IS possible when DNA analysis is used. This is a very contraversial statement. Most experts have said that DNA population screening will not work, although many of these statements were concluded 15 years ago before some important more recent conclusions have been made. This has resulted in diagnosis of of HH requiring at minimum dangerously high ferritin blood levels before a doctor will consider a diagnosis. In other words you have to have had organ damage before they will consider Phlebotomy. We believe this is an antiquated view and highly damaging to sufferers of Hemochromatosis. However, we believe these conclusions were made more out of the consideration of cost of doing population screening rather than any real scientific facts. Clearly what we're doing with CheckIron has never been done before and on limited data we are seeing something very different. We do believe there is some limited evidencce that Genetics can predict the age at which someone will overload iron and therefore suffer from bad symptoms.

Let us know your thoughts on this.