Living with Hemochromatosis type 3
An inherited condition where too much iron builds up in the body, especially the liver, heart, and pancreas.
Understanding Hemochromatosis type 3
Extra iron can harm organs, especially the liver, heart, and pancreas. Early symptoms can include tiredness, weakness, and joint pain. Later problems may include liver disease, diabetes, and heart problems. It usually starts in the teen years or adulthood. Doctors may use blood tests, MRI, or a liver biopsy, and genetic testing can confirm it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Patchy darker skin (hyperpigmentation)
- Tiredness and weakness
- Joint pain
- Belly pain
- Loss of sex drive
- Diabetes or heart problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TFR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TFR2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hemochromatosis due to defect in transferrin receptor 2; hereditary hemochromatosis caused by mutation in tfr2; hereditary hemochromatosis type 3; hfe3; tfr2 (transferrin receptor 2 gene) related hemochromatosis; tfr2 hereditary hemochromatosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hemochromatosis type 3.
Explore research for Hemochromatosis type 3
Explore actively recruiting Hemochromatosis type 3 studies with HealthSpark.
Find actively recruiting studies for Hemochromatosis type 3 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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