How would you decide whether or not to test for this gene with your patients

1. Elevated red cell folate levels – this does not mean the patient is eating lots of green leafy vegetables. It means that folate levels are building up and not being converted. Increased folic acid (which is in supplements and fortified foods like bread) builds up and has the potential to be shunted into Unmetabolised folic acid (UMFA), which research shows causes decreased NK cell activity ⁽²⁾

2. Serum B12 (7).Preferably check TC11. œHoloTC II is a metabolically active protein that transports cobalamin to cell membrane receptors. Its serum concentration can be used to measure the amount of vitamin B12 attached to the binding protein transcobalamin II. Compared to measurements of serum vitamin B12, holoTC II seems to have greater sensitivity and specificity.⁽³⁾

3. Chronic low WCC, neutrophils, lymphocytes

4. Increased MCV > 90.⁽³⁾

5. Low haemoglobin ⁽³⁾

6. Increased RDW > 13% ⁽⁴⁾

7. Subjective symptoms “ fatigue, dizziness, general feeling of being unwell, constantly sick, anxiety, depression.

8. Elevated homocysteine Levels over 7-8 umol are considered high by some and the Homocysteine Studies collaboration indicate that adults with homocysteine values > 6.3 umol/L are at increased risk of atherosclerosis. ^(5,6). The Medical Journal of Australia in 2012 states that homocysteine levels greater than 9umol/L suggest the beginning of depleted Vitamin B12⁽⁷⁾Remember that MTHFR is NOT just about elevated homocysteine. Just because homocysteine levels are not raised, does not mean the patient should not be treated.

9. Always include MTHFR in your preconception panels as homozygous C677T variant has been linked to multiple miscarriage. (see further research below for references).

References

1) http://jmg.highwire.org/content/41/6/454.full.pdf
2) PMID: 16365081
3) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1570488/
4) http://www.medscape.com/viewarticle/410469_4
5) Robinson K, Mayer EL, et al. Hyperhomocysteinemia and low pyridoxal phosphate: common and independent reversible risk factors for coronary artery disease. Circulation. 1995; 92:2825-2830.
6) http://jama.jamanetwork.com/article.aspx?articleid=195433