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

FECH gene

The FECH gene provides instructions for producing the enzyme ferrochelatase, which is responsible for the final step in the production of heme, a vital component of hemoglobin and other proteins.

Normal Function

The FECH gene provides instructions for making an enzyme known as ferrochelatase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is an essential component of iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).

The production of heme is a multi-step process that requires eight different enzymes. Ferrochelatase is responsible for the eighth and final step in this process, in which an iron atom is inserted into the center of protoporphyrin IX to form heme.

Health Conditions Related to Genetic Changes

Porphyria

More than 110 mutations in the FECH gene have been identified in individuals with a form of porphyria called erythropoietic protoporphyria. A mutation in one copy of the FECH gene reduces each cell's production of ferrochelatase by about half. However, this is not enough to cause the signs and symptoms of porphyria; people with this disorder must also inherit a second altered copy of FECH.

A shortage of functional ferrochelatase allows compounds called porphyrins to build up in developing red blood cells. These compounds are formed during the normal process of heme production, but reduced activity of ferrochelatase allows them to accumulate to toxic levels. The excess porphyrins can leak out of developing red blood cells and be transported through the bloodstream to the skin and other tissues.

  • Skin sensitivity: High levels of porphyrins in the skin cause the characteristic oversensitivity to sunlight.
  • Gallstones: Large amounts of porphyrins in the gallbladder can cause gallstones.
  • Liver damage: Less commonly, a buildup of these compounds in the liver can result in liver damage.

Other Names for This Gene

  • ferrochelatase (protoporphyria)
  • Ferrochelatase, mitochondrial
  • Heme Synthetase
  • HEMH_HUMAN
  • Porphyrin-Metal Chelatase
  • Protoheme Ferro-Lyase

Frequently Asked Questions

Patients with FECH mutations develop erythropoietic protoporphyria (EPP), which makes the skin extremely sensitive to light. Flare‑ups are usually triggered by exposure to bright sunlight, especially the blue‑violet part of the spectrum, or by indoor lighting that contains high‑intensity LEDs. To prevent flare‑ups, wear broad‑spectrum sunscreen with a very high SPF (at least 50), use UV‑blocking clothing, sunglasses with UV protection, and avoid direct sunlight during peak hours (10 a.m.–4 p.m.). Some patients also benefit from wearing a wide‑brimmed hat and using a UV‑blocking window film at home or in the car. Consistent use of these protective measures can significantly reduce the frequency and severity of photosensitivity episodes.
The diagnosis of EPP starts with a clinical history and physical exam, followed by laboratory testing. A key test is the measurement of protoporphyrin levels in the blood and urine; elevated protoporphyrin (often >200 µmol/L) is characteristic of EPP. A skin biopsy can show porphyrin deposition. Genetic testing of the FECH gene via next‑generation sequencing or Sanger sequencing identifies pathogenic variants. This test differentiates EPP from other porphyrias that may present with abdominal pain or neurological symptoms but have different biochemical profiles. A comprehensive evaluation by a hematologist or a porphyria specialist is recommended.
Current management focuses on preventing light exposure and using topical or oral pain relievers for flare‑ups. Oral beta‑carotene (15–30 mg/day) can help reduce photosensitivity in some patients. For severe cases, low‑dose oral iron chelators like deferiprone may be prescribed to lower protoporphyrin levels. Phototherapy with narrow‑band UV‑B is generally avoided because it can worsen symptoms. Gene therapy is still experimental; early trials using viral vectors to deliver functional FECH to bone marrow cells are underway, but no approved gene therapy exists yet. Patients interested in clinical trials should consult a porphyria specialist.
Patients with EPP should avoid iron‑rich foods and supplements that can increase iron absorption, as excess iron can worsen porphyrin accumulation. Limit red meat, fortified cereals, and iron‑supplemented drinks. Avoid medications that are photosensitizing, such as tetracyclines, fluoroquinolone antibiotics, sulfonamides, and certain antihistamines. If a medication is essential, discuss alternative options with your provider. Additionally, avoid excessive use of over‑the‑counter sunscreens that contain oxybenzone or avobenzone, as these can sometimes worsen photosensitivity.
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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