23andme Hemochromatosis status can be used to identify a hereditary condition in which the body absorbs the excess of iron from the food consumed. Iron is important for various functions like oxygen transport and for oxidative phosphorylation. While iron deficiency can lead to anemia, excessive iron can lead to iron-overload. The iron levels in the body can be determined by evaluating serum iron levels, serum transferrin and saturation of transferrin with iron. It has been estimated that 25 to 50% variation in these blood iron markers is due to genetic variants carried by an individual.
Normally about 8 to 10% of iron from food is absorbed in the body, however, in people with hemochromatosis, there is 4 times increase in absorption. This condition of iron overload is also known as genetic hemochromatosis and leads to the slow accumulation of iron which can eventually lead to organ damage. DNA raw data can be used to check for variants in the hemochromatosis gene, C282Y and H36D.
Evolutionary origin of hemochromatosis gene mutation:
Genetic variants to specific traits are inherited due to an environmental pressure that either triggered the mutation or which encouraged people with the variants to survive. Evolutionary biologists believe that this condition arose as a result of low iron reserves from food in the Celtic region, about 6000 years ago, which necessitated storage of available iron from food. Though this variant was beneficial during the period of poor iron reserves and when the risk of maternal iron deficiency was high, this condition can lead to serious health effects now, if left undetected.
What are hereditary hemochromatosis symptoms?
Hereditary hemochromatosis is present from birth, as it is caused due to the presence of a genetic variant. However, most people with this condition exhibit symptoms only during middle age. Men are more likely to show symptoms at an earlier age, in their 30s. Women begin to show symptoms only postmenopause, when they no longer lose iron during their monthly menstruation or during pregnancy.
The symptoms are usually mild or remain undetected as most of the symptoms are similar to common conditions. Hereditary hemochromatosis symptoms include
- Abdominal pain
- Joint pain
- Weakness
- Fatigue
- Abnormal skin colour
- Hypothyroidism
- Hypogonadism
- Diabetes
- Heart failure
- Liver failure
How do hemochromatosis gene variants lead to iron overload?
The liver secretes a hormone called hepcidin which is responsible for maintaining iron levels in the body, how much is absorbed and where it is stored. Certain genetic variants in the hemochromatosis gene disrupt the functioning of hepcidin and result in excessive absorption of iron from the food consumed. This excess iron is then stored in the liver and other major organs. Over a prolonged period of time, the excess of iron in such organs can lead to organ failure, diabetes or heart failure.
How do you find out your 23andme hemochromatosis status?
Upload your DNA raw data from 23andme to find out your hemochromatosis status. There are essentially two significant genetic variants in the HFE gene associated with hemochromatosis.
- c282Y (rs1800562)
- H63D (rs1799945)
Significant of the two is C282Y, people who carry two AA are associated with a higher risk for hemochromatosis. According to a study published in the American Journal of Human Genetics, the C282Y variant contributes to 26% variation in ferritin levels among monozygotic twins and 20% phenotypic variation.
Using DNA raw data to find your hemochromatosis status
Upload your 23andme or your Ancestry DNA raw data to find which variants of rs1800562 you carry
[table “62” not found /]Upload your 23andme or your Ancestry DNA raw data to find which variants of rs1799945 you carry
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Who is a hemochromatosis carrier?
A person who has one risk variant of rs1800562 and one normal variant is considered to be a carrier. Approximately 1 in 10 Americans carry one copy of this variant and are carriers.
Compound heterozygous: People who carry one risk variant of rs1800562 and one risk variant on rs1799945 have a higher risk of developing hemochromatosis if the variants are on separate chromosomes, one from the father and the other from the mother.
What are the different types of hemochromatosis?
Apart from hereditary hemochromatosis, there are other hemochromatosis conditions that can lead to iron overload.
- Juvenile hemochromatosis: This condition occurs earlier than classic hereditary hemochromatosis. It occurs due to mutations in the hepcidin gene.
- Secondary hemochromatosis: Excessive blood transfusions during certain disease conditions, like liver disease, could result in iron overload
- Neonatal hemochromatosis: This is considered to be an autoimmune condition that leads to a build up of iron among neonates.
Will everyone with the hemochromatosis HFE C282Y variant develop iron overload?
Nearly 1 in 200 Americans carry two copies of the A variant of C282Y, which increases their risk for hemochromatosis. Not everyone who carries two copies of this variant develops hemochromatosis, only about 10 % develops iron overload. Early identification of the genetic variant carried will help in managing this condition and help prevent tissue damage due to excess iron.
How will knowing more about your 23andme hemochromatosis status help?
Identifying the genetic variant carried will help in altering lifestyle and dietary habits to prevent excess iron in the body, specifically in organs and tissues.
The following are some important ways to manage hemochromatosis
- Phlebotomy: One of the most effective methods of managing high levels of iron in the blood or for those who have a high risk is to donate blood every 6 months under medical supervision. This will help in preventing excess of iron build up in the body.
- Moderate consumption of iron rich foods: Red meat or meat from venison, goat, pork or beef are rich in iron and should be avoided. Cereals and snacks that are fortified with iron should also not be consumed by high risk men and older women.
- Consume black tea: Drinking a cup of black tea along with meals lowers absorption of iron from the food consumed.
- Watch out for bacterial infections: Gram negative bacteria thrive in iron rich substrates and oysters and other seafood are known to host such bacteria. Therefore consumption of such seafood should be avoided.
- Limit intake of alcohol: Hemochromatosis individuals who show signs of liver damage should avoid intake of alcohol.
- Moderate intake of vitamin A and Vitamin C rich foods: Vitamin A and Vitamin C upregulate iron absorption and should, therefore, be consumed in moderation.
Upload your 23andme raw data or your Ancestry DNA raw data to find out your hemochromatosis status by availing Xcode health report here.
References
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668053/
- https://haemochromatosis.org.au/genetics/
- https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443
WATCH: How to interpret your MTHFR report
What is MTHFR?
MTHFR stands for methylenetetrahydrofolate reductase and is produced by the MTHFR gene.
MTHFR enzyme performs the function of adding chemical (methyl) groups to folic acid (Vitamin B9) in order for the body to utilize it efficiently.
This process is also necessary for the process that converts the amino acid homocysteine to another amino acid, methionine.
With your 23andMe raw data, you can learn a lot about your MTHFR gene.
But, why should you learn about your MTHFR gene status?
All of us have the MTHFR gene. But the type of MTHFR gene differs from person to person.
To explain this better, let’s take the example of blood groups. All of us have red blood. But you may have O+ve blood type, while the other person may be A-ve - and these different blood groups have different health implications.
Like how O+ve and A+ve are the most common blood types, the MTHFR gene also has 2 common variants (type): C677T and A1298C, the former being more common than the latter.
About 40% of the American population have the C677T type, which has been associated with up to 80% reduction in the enzyme’s efficiency
This reduction has been found to lead to increased levels of homocysteine, which in turn increases the risk of venous thrombosis and heart diseases.
Once you learn about the type of MTHFR gene you carry, the effects of it can be made better by simple fixes such as dietary changes and folic acid supplements.
What is an MTHFR test?
An MTHFR gene test examines variations in the MTHFR gene.
This test does not need a medical prescription. It can be performed in a major genetic diagnostic lab such as Quest or LabCorp.
More readily, the 23andMe MTHFR status can be learned from your 23andMe raw data. Anyone with 23andMe raw data can upload their DNA raw data to xcode.life to learn about their 23andMe MTHFR status. So the MTHFR “test” does not necessarily have to be a test but can be as simple as uploading your 23andMe raw data (if you already have it) and downloading your results.
In an MTHFR gene test, the DNA is retrieved from a saliva sample. The sequence of your DNA is then analyzed for the most well-studied and verified types of MTHFR gene known to have an effect on your body functions and disease mentioned above.
Who tests for MTHFR mutations?
There are many service providers and online tools that help you find out about your 23andMe MTHFR status. Some of them are listed below:
- Xcode Life: Almost 40 SNPs related to methylation and MTHFR are reported as part of the Xcode life MTHFR and Methylation report. You can upload raw data from most major ancestry companies such as 23andme, Ancestry DNA, Family Tree DNA (FTDNA), and others (view the complete list here) and learn about your 23andme MTHFR status. The reports come with a detailed set of recommendations that guide you through the dietary changes necessary to mitigate the enzyme deficiency.
- Genetic Genie is a tool that accepts raw data only from 23andMe
- Genetic life hacks blog: It is not a tool but has a lot of information dedicated to methylation and the MTHFR gene that you can use as a reference if you have your raw data and a little knowledge about how SNPs work. However, if you do not have such a background do not attempt to interpret the information all by yourself.
- Livewello
- Dr. Amy Yasko’s Nutrigenomic testing
How to check my DNA raw data for MTHFR status
The MTHFR nucleotide at position 677 in the gene has two possibilities: C (cytosine) or T (Thymine). C at position 677 is the normal version - Let us call this the C type gene.
The C type gene produces an enzyme that is stable in heat. Thus, people who have this type have normal enzymatic activity.
The T type gene (T at position 677), on the other hand produces an enzyme that is unstable in heat.
People who have the T type gene have lower enzymatic activity as this enzyme is readily destroyed by heat.
Individuals with two copies of the C type gene (CC) are the majority in the population.
Those with two copies of the T type gene (TT) have lower enzyme activity than CC or CT (one copy of the C type and one copy of the T type genes) individuals.
Low dietary intake of the vitamin folic acid can also cause mild hyperhomocysteinemia.
Essentially, your 23andMe MTHFR analysis provider will be able to tell you whether your MTHFR enzyme efficiency is normal, reduced, or severely reduced and recommend supplements or diets accordingly.
With simple dietary modifications, you will be able to mitigate the enzyme deficiency.
If you already have your DNA raw data from an ancestry test you may have done, you can easily find out your 23andMe MTHFR status from your DNA raw data. Otherwise, you may consider an ancestry test for $99 or less, so that you can get your genetic raw data for further analysis. Once you have your raw data, you can upload it to xcode.life for your 23andMe MTHFR status report.
