Is Vitamin B12 Deficiency a Genetic Mutation?

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About half the population has a gene mutation making them prone to genetic vitamin B12 deficiency, according to researchers, which would explain the growing epidemic of pernicious anemia from untreated vitamin B12 deficiency. About 40 percent of people between the ages of 26 and 83 have dangerously low levels of vitamin B12, and many don’t even realize it until the debilitating symptoms begin to set in. Here are the facts on genetic vitamin B12 deficiency.

Is Vitamin B12 Deficiency a Genetic Mutation?

The MTHFR gene and B12 Deficiency

Everybody has two MTHFR genes, one from each parent. These genes are necessary for efficiently converting vitamin B12 to a usable form, and in effect also maintaining healthy homocysteine levels.

If you have defective MTHFR genes, then you’re not able to convert cobalamin to usable vitamin B12 as effectively as somebody without the gene defect.

However, nearly 50% of all people have a defected MTHFR gene from one parent, and 10% have mutated MTHFR genes from both parents, making them more likely to suffer genetic vitamin B12 deficiency, and also elevated levels of homocysteine, which has been linked to hardening of the arteries and increased risk for heart attack.

Causes for Vitamin B12 Deficiency

Vitamin B12 absorption is a complicated process, and there are many things that can go wrong. Certain health conditions, medications, invasive surgeries, dietary restrictions, and yes- genetics- can impede your ability to digest vitamin B12 properly from food sources and vitamin supplements.

Common causes of vitamin B12 deficiency include:

  • Vegan and vegetarian dieting
  • Family history for autoimmune disorders, such as lupus and fibromyalgia
  • Family history for pernicious anemia
  • MTHFR gene mutations
  • Gastrointestinal infections or illnesses, such as leaky gut, Crohn’s, celiac, and Small Intestine Bacterial Overgrowth (SIBO)
  • Bariatric surgeries or ilium removal for Crohn’s treatment
  • Medications such as metformin for diabetes and PPIs for GERD
  • Old age
  • Alcoholism

Find out if you have genetic B12 Deficiency

There are several ways of finding out if you have vitamin B12 deficiency, including plasma vitamin B12 level screening, complete blood count (CBC) and homocysteine blood screening for Hyperhomocysteinemia.

As for testing for the MTHFR gene mutation, there are no official guidelines as to who should be tested. So unless you request a test for genetic vitamin B12 deficiency from a doctor who is able to comply, then your best bet is to stay on top of vitamin B12 and homocysteine levels, and supplement daily with vitamin B12, folate and vitamin B6.

Treating vitamin B12 Deficiency

If you’re tested with genetic vitamin B12 deficiency caused by a gene mutation, or any form of vitamin B12 deficiency that doesn’t stem from diet, then it’s absolutely essential to supplement with vitamin B12 in order to prevent vitamin B12 deficiency and other severe malnutrition. Diet alone will not provide you the amount of vitamin B12 needed in order to prevent pernicious anemia.

Please tell us…

Would you consider getting tested for genetic vitamin B12 deficiency? Do one or both parents also have vitamin B12 deficiency or pernicious anemia?

Do you have any questions or suggestions?  Please leave your comments below.

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