Metabolic

Hereditary Hemochromatosis

Also known as HFE-related hemochromatosis, HFE hereditary hemochromatosis, iron overload disease

Hereditary hemochromatosis is the most common genetic disorder of iron metabolism in populations of Northern European descent, most often caused by homozygous C282Y mutations in the HFE gene. Unregulated intestinal iron absorption leads to

ORPHA:93616 ↗Gene HFEPrevalence 1-5 per 1,000 (Orphanet)Onset AdultAutosomal recessive genetic

4

studies recruiting now

as of 7 Sept 2026

70

studies registered in total

as of 7 Sept 2026

19

countries with a recruiting site

as of 7 Sept 2026

28 Jan 2026

most recent study posted

among recruiting studies

Recruiting trials

Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.

Search all Hereditary Hemochromatosis studies

Where recruiting studies are running

Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.

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Patient organisations

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About Hereditary Hemochromatosis

Hereditary hemochromatosis is the most common genetic disorder of iron metabolism in populations of Northern European descent, most often caused by homozygous C282Y mutations in the HFE gene. Unregulated intestinal iron absorption leads to progressive iron deposition in the liver, heart, pancreas, joints, and endocrine glands. Clinical manifestations include liver cirrhosis, cardiomyopathy, diabetes mellitus, arthropathy, and hypogonadism. Phlebotomy (blood removal) remains the cornerstone of treatment.

Common clinical features

Liver cirrhosisFatigueArthropathyDiabetes mellitusCardiomyopathySkin bronzingHypogonadism

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Treatments being studied

2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Phase 2Deferasirox (Deferasirox)
Phase 2Rusfertide

Before you apply

Things trial teams commonly ask about for Hereditary Hemochromatosis. Not eligibility rules; those are set by each study.

  • Serum ferritin and transferrin saturation are the primary eligibility biomarkers — document pre-treatment and current levels
  • Liver iron concentration by MRI (MRI-LIC) or biopsy is often required for advanced disease trials
  • Phlebotomy frequency and volume history should be thoroughly documented — some trials require maintenance phase stability
  • Non-HFE forms (TFR2, HJV, HAMP mutations) are biologically distinct and may have separate or exclusionary eligibility criteria

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).