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TFR2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TFR2 gene

The TFR2 gene provides instructions for a protein that helps regulate iron levels in the body by controlling iron uptake in the liver.

Normal Function

The TFR2 gene provides instructions for making a protein called transferrin receptor 2. This protein is primarily found on the surface of liver cells (hepatocytes), where it binds to transferrin—a protein that transports iron through the blood—to allow iron to enter the cells.

Additionally, transferrin receptor 2 helps regulate iron storage by controlling the levels of hepcidin. Hepcidin is a protein that determines how much iron is absorbed from the diet and released from storage sites in the body.

Health Conditions Related to Genetic Changes

Hereditary hemochromatosis

Mutations in the TFR2 gene cause type 3 hemochromatosis, a form of hereditary hemochromatosis that typically begins before age 30. This condition causes the body to absorb excessive iron from the diet, which then accumulates in and damages tissues and organs.

Mutations may prevent the production of transferrin receptor 2, result in a non-functional protein, or block the protein from binding to transferrin. These changes lead to low levels of hepcidin, resulting in increased iron absorption and subsequent iron overload in the liver and other tissues.

Other Names for This Gene

  • HFE3
  • TFR2_HUMAN
  • Transferrin Receptor Protein 2

Frequently Asked Questions

Screening is advised starting at age 10–12 years with ferritin and transferrin saturation. If results are normal, repeat testing every 2–3 years until age 30, then annually thereafter. Earlier testing is warranted if symptoms (fatigue, abdominal pain) appear.
Both conditions are managed primarily with therapeutic phlebotomy, but type 3 patients often develop iron overload at a younger age and may require more aggressive removal (e.g., 500 mL weekly until ferritin <50 ng/mL). Additionally, because TFR2 mutations can affect hepcidin regulation, some clinicians add low‑dose oral iron chelators (e.g., deferasirox) if phlebotomy is contraindicated (anemia, cardiac disease).
The key screening panel includes serum ferritin, transferrin saturation (iron ÷ total iron‑binding capacity), and a complete iron panel (serum iron, TIBC). In TFR2‑related disease, ferritin often exceeds 300 ng/mL in men and 200 ng/mL in women, and transferrin saturation is typically >45 %. Genetic testing for TFR2 mutations confirms the diagnosis.
The goal is to keep serum ferritin between 50–100 ng/mL and transferrin saturation below 30 %. Once iron stores are normalized, maintenance phlebotomy (e.g., 250 mL every 2–3 months) is usually sufficient. Lifestyle measures—avoiding iron‑rich supplements, limiting vitamin C with meals, and moderating alcohol intake—help sustain low iron levels.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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