Hereditary hemochromatosis: genes and variants
Hereditary hemochromatosis is linked to 1 analyzed protein (HFE). 2 DNA variants are known to cause it; 38 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary hemochromatosis
HFE: Hereditary hemochromatosis protein
It helps the liver sense circulating iron availability and regulate hepcidin, thereby controlling intestinal iron absorption and systemic iron distribution. The C282Y variant is the major genetic cause of HFE-related hereditary hemochromatosis and progressive iron overload.
2 disease-causing and 38 uncertain variants in HFE are linked to Hereditary hemochromatosis.
Known disease-causing variants in Hereditary hemochromatosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HFE L183P | 183 | Alpha-2 | Disease-causing (★★) |
| HFE Q283P | 283 | Ig-like C1-type | Disease-causing (★★) |
Same protein, different disease
- Hemochromatosis is also caused by HFE variants; they fall mostly in different places as the Hereditary hemochromatosis variants (5 disease-causing).
Diseases related to Hereditary hemochromatosis
- Alzheimer disease, also linked to HFE
- Hemochromatosis, also linked to HFE
- Microvascular complications of diabetes, susceptibility to, 3, also linked to HFE
- Familial porphyria cutanea tarda, also linked to HFE
Frequently asked questions
Which genes are linked to Hereditary hemochromatosis?
In CATVariant, Hereditary hemochromatosis is linked to 1 analyzed protein: HFE (Hereditary hemochromatosis protein).
How many genetic variants are linked to Hereditary hemochromatosis?
60 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 38 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary hemochromatosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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