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HFE Gene and Joint Health: What Your Genotype May Mean

Arthritis refers to a group of conditions that cause joint pain, stiffness, and reduced mobility. The HFE gene is best known for its role in hereditary hemochromatosis, a condition that increases iron absorption. When iron builds up in the body, it can deposit in joints and cause damage that looks similar to osteoarthritis. Certain variants of the HFE gene are associated with higher risk of joint degeneration, especially in the hands, hips, and ankles. Below you will find an easy-to-understand explanation of how different genotypes at rs1800562 may influence joint risk, plus practical diet, supplement, exercise, and testing considerations to support joint health.

How HFE Variants Can Affect Joints

  • Excess iron accumulation can promote oxidative stress and inflammation in joint tissues, contributing to cartilage breakdown and accelerated osteoarthritis-like changes.
  • Some HFE variants increase iron absorption from food, which raises the chance of iron deposition if not monitored or managed.
  • Research suggests that certain HFE changes might influence osteoarthritis risk even when overall iron levels are not markedly elevated.
Two effect alleles (AA at rs1800562) — Increased risk

You carry two copies of the effect allele at rs1800562. This genotype is associated with a higher risk of osteoarthritis related to HFE. The pattern is linked to hereditary hemochromatosis, which can cause excess iron absorption and iron deposition in joints. Over time, iron buildup may damage cartilage, especially in the hands, hips, and ankles, producing symptoms similar to accelerated osteoarthritis.

If you have this genotype, consider proactive monitoring and lifestyle steps to protect joints and overall health.

One effect allele (AG at rs1800562) — Likely increased risk

You carry one copy of the effect allele. This genotype is associated with a likely increased risk of osteoarthritis compared with the non-effect genotype. A single copy may raise iron absorption modestly and can contribute to iron accumulation in tissues, including joints. Some studies suggest that even without clinical iron overload, these variants can influence joint health—particularly in the hands and ankles.

Maintaining joint-supportive habits and discussing targeted testing with your healthcare provider are reasonable steps.

No effect alleles (GG at rs1800562) — Typical HFE-related risk

You carry two copies of the non-effect allele. This genotype indicates you do not carry the HFE variant commonly linked to hereditary hemochromatosis. Your genetic risk for HFE-related iron accumulation in joints is not elevated compared to those with effect alleles. That said, osteoarthritis has many causes, so general joint health strategies remain valuable.

Practical Steps to Support Joint Health

Diet and Nutrition

  • Follow an anti-inflammatory eating pattern emphasizing fruits, vegetables, whole grains, legumes, and lean proteins.
  • Include sources of omega-3 fats such as fatty fish, walnuts, chia seeds, or algae-based supplements. Omega-3s help reduce joint inflammation.
  • Limit processed foods, refined sugars, and excess saturated fats, which can increase systemic inflammation.
  • If you are at risk for iron overload, avoid unnecessary high-dose iron supplements and be cautious with excessive red meat intake; discuss iron intake with your healthcare provider.
  • Ensure adequate calcium and vitamin D for bone support via food sources and safe sun exposure or supplements if advised by your clinician.

Supplements to Consider

  • Glucosamine and chondroitin: Some people report symptomatic relief for joint pain; responses vary.
  • Omega-3 supplements: Useful for reducing inflammation in people who do not consume enough dietary omega-3s.
  • Vitamin D: Adequate levels support bone health and muscle function. Test levels before starting high doses.
  • Calcium: Consider if dietary intake is low; balance with vitamin D and medical guidance.
  • Antioxidant-rich supplements: Curcumin or botanical anti-inflammatories may help some individuals, but discuss interactions and dosing with your provider.

Exercise and Lifestyle

  • Prioritize regular low-impact exercise such as walking, swimming, cycling, or tai chi to maintain joint mobility and muscle strength.
  • Strength training for supporting muscles around joints reduces joint stress and improves function.
  • Maintain a healthy weight. Every pound of excess weight increases load on weight-bearing joints.
  • Use good posture and ergonomic supports when sitting, standing, or lifting to reduce joint strain.
  • Stay hydrated to support joint lubrication and cartilage health.
  • Avoid repetitive joint overuse and protect joints during activities with appropriate padding or supportive footwear.

Blood Tests and Medical Monitoring

  • If you have one or two effect alleles, consider discussing iron-related tests with your healthcare provider: serum ferritin, transferrin saturation, and serum iron can help assess iron status and guide management.
  • Periodic monitoring of liver function and other organ assessments may be recommended for people at risk of hereditary hemochromatosis.
  • Baseline vitamin D testing can inform appropriate supplementation.
  • If you experience persistent joint pain, swelling, redness, or reduced range of motion, seek clinical evaluation. Imaging or specialist referral may be needed to diagnose specific types of arthritis.

When to Talk to Your Healthcare Provider

  • If you carry HFE risk variants and have symptoms like progressive joint pain, stiffness, or early-onset osteoarthritis features, schedule an evaluation.
  • Discuss appropriate blood testing for iron status and potential follow-up plans if tests are abnormal.
  • Review any supplements you are taking to avoid interactions and ensure safe dosing based on your overall health and medications.
  • If you have a family history of hereditary hemochromatosis, liver disease, or premature arthritis, inform your clinician so they can tailor screening and care.

Final Notes and Disclaimer

PlexusDx provides genetic information to help you understand potential predispositions and supportive lifestyle strategies. PlexusDx does not provide medical advice. This information is educational and not a substitute for professional medical evaluation, diagnosis, or treatment. Always consult your healthcare provider before starting or stopping any medication, supplement, or major lifestyle change, and to interpret genetic results in the context of your personal and family medical history.