Topic
Genetics
Genetics is a recurring research topic on Health Canon. This hub collects related explainers and protocols, newest first, each with evidence grades and practical decision frameworks.
-
Hormones & Genes
MTHFR: What to Do and What to Skip (2026)
Do food folate and pregnancy-era folic acid evidence; don't routine SNP panic or detox methylation stacks.
-
Hormones & Genes
When MTHFR-Related Testing Means Phenotype or Rare Disease
Common SNPs are not IEM workups. Measure homocysteine and standard labs for phenotype; reserve rare severe MTHFR deficiency testing for true inborn-error presentations—not wellness panels.
-
Hormones & Genes
ACMG MTHFR Guideline: Do Not Routinely Genotype
ACMG 2013 (with later addendum pathway) finds minimal clinical utility for common MTHFR SNPs—do not order for thrombophilia, RPL, or cascade relatives.
-
Hormones & Genes
Non-HFE and Juvenile Hemochromatosis: Genes Beyond C282Y
About 10–15% of inherited iron overload is non-HFE (HJV, HAMP, TFR2, SLC40A1). Juvenile forms load fast with early heart and endocrine disease—escalate beyond HFE-only testing.
-
Hormones & Genes
HFE C282Y Genetics and Incomplete Penetrance Deep Dive
C282Y/C282Y is common in Northern European ancestry (~1/220–250) but severe end-organ disease is uncommon. Genotype is risk; TSAT/ferritin and organs are expression.
-
Hormones & Genes
MTHFR Myths, Debunked (2026)
Common MTHFR claims ranked by evidence harm—folate, folic acid, SNPs, and when genetics actually change care.
-
Hormones & Genes
Severe MTHFR Deficiency vs Common C677T/A1298C SNPs
Two-bucket genetics: rare biallelic disease versus population polymorphisms.
-
Women's Health
MTHFR Variants and Neural Tube Defect Risk: Epidemiology
OR ~1.6 for maternal 677TT, folate-modifiable risk, and why intake outranks genotype.
-
Hormones & Genes
Direct-to-Consumer MTHFR Testing: Counseling and Misinterpretation Risks
How raw SNP reports become medical stories—and how to counsel without ACMG violations.
-
Hormones & Genes
MTHFR C677T and A1298C: Enzyme Activity vs Clinical Meaning
Teaching residual-activity percentages, thermolabile biology, and why common SNPs are not rare disease.
-
Metabolic Health
Non-HFE and Juvenile Hemochromatosis: HJV, HAMP, TFR2, Ferroportin
About 10–15% of inherited iron overload is non-HFE. Juvenile forms (HJV/HAMP) load fast with early heart and endocrine disease—negative HFE is not “not genetic.”
-
Metabolic Health
HFE Genetic Testing Workflow: Who to Test and How to Interpret
HFE genotyping follows elevated iron studies or first-degree relatives of known HH—not unselected population screening. Homozygotes, compound hets, and simple hets map to different next steps.
-
Women's Health
Hemochromatosis in Women: Menstrual Protection and Menopause Unmasking
Women inherit HFE risk equally but show lower clinical penetrance—until menses stop. Re-check iron status around menopause; never say women cannot get hemochromatosis.
-
Men's Health
Hemochromatosis in Men: Earlier Presentation and Higher Complication Rates
Men inherit HFE risk equally but present earlier and develop complications more often—about 28% vs 1% documented disease in one classic C282Y cohort comparison.
-
Metabolic Health
Hemochromatosis Screening: Family Cascade vs Population Genetics
Screen first-degree relatives with iron studies plus HFE testing. Societies recommend against universal population genotype screening because penetrance is incomplete.
-
Hormones & Genes
HFE C282Y Penetrance: Why Genotype Is Not Destiny
C282Y homozygosity raises risk; most homozygotes never get full clinical hemochromatosis.
-
Hormones & Genes
MTHFR Gene Variants: What Actually Matters Clinically
C677T and A1298C explained with ACMG non-utility, CDC folic acid facts, and riboflavin research graded honestly.
-
Metabolic Health
Iron Overload and Hemochromatosis: Labs, Genes, and Treatment
TSAT gates, ferritin myths, C282Y penetrance, phlebotomy targets, and why diet cannot replace blood removal.
-
Hormones & Genes
ACMG MTHFR Testing Guidance: Why Routine SNP Orders Are Discouraged
ACMG: do not order MTHFR polymorphism testing for thrombophilia or recurrent pregnancy loss. Fortification-era evidence dismantled the old causal chain.
Frequently asked