Hemochromatosis Gene Mutations Increase Male Dementia Risk

Is it possible for certain gene mutations, which cause a specific condition, to also raise the risk of developing another condition? Well, says HealthDay, the answer might be yes. In a study published in early February 2021, researchers explain that HFE gene mutations normally cause hemochromatosis. However, the study shares, the HFEp.C282Y variant also increases the risk of dementia in males. Read the full study findings published in the Journal of Alzheimer’s Disease.

The Research

Initially, researchers began the study with an understanding that iron deposits in the brain can prompt dementia. They explain:

Iron accumulation in specific brain areas is found in Alzheimer’s disease (the most common form of dementia), beyond normal accumulations seen in aging, and these iron accumulations are associated with amyloid plaques and tau aggregation

So are those with hemochromatosis more likely to develop dementia as well? The study authors compared data from 206 p.C282Y variants and 23,349 participants without these gene mutations. To perform the research, they used MRI and analyzed a mean of 10.5 years of hospitalization records. During the study, the researchers determined that patients with p.C282Y variants faced a heightened risk of dementia. Thus, those with hemachromatosis-associated mutations were more likely to  increase the risk of dementia.

At the same time, the authors state, additional research is needed to understand the exact association between these gene mutations and dementia, and whether it could be treated.


Also known as iron overload disorder, hemochromatosis is a rare disease which causes excess iron to accumulate throughout the body. Normally, our body uses iron to produce certain hormones. Iron also plays an extremely important role in hemoglobin production; this protein, found in red blood cells, helps carry oxygen throughout the body. But when someone has this condition, there is too much iron, which can be toxic. The excess iron begins to accumulate in the liver, heart, pancreases, and other organs. Without treatment, hemochromatosis can cause organ failure.

HFE gene mutations cause the primary form of this condition. Males and those of Northern European descent are also at increased risk. However, the secondary form is much more rare, and typically caused from another condition (like anemia). In early stages of hemochromatosis, patients may be asymptomatic. However, as the disease progresses, patients may experience:

  • Stomach and joint pain
  • Fatigue
  • Lethargy
  • Skin darkening
  • Unintended weight loss
  • Diabetes
  • Impotence
  • Loss of sexual desire or drive
  • Abnormal heart rhythm
  • Arthritis
  • Liver or heart failure

Learn more about hemochromatosis.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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