Living with Hemochromatosis type 5
A very rare inherited condition in which extra iron builds up in the body, reported in only one family.
Understanding Hemochromatosis type 5
GARD says it has only been reported in one family from Japan. Family members with the condition had no symptoms. But MRI showed extra iron in the liver, heart, and bone marrow, and blood iron levels were high. Because it is so rare, it may not be suspected until a scan or blood test shows it.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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 FTH1 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 FTH1 gene. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: ferritin heavy chain 1-related iron overload; fth1 (ferritin heavy chain 1) related iron overload; fth1 hereditary hemochromatosis; fth1-associated iron overload; fth1-related iron overload; hereditary hemochromatosis caused by mutation in fth1
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 5.
Explore research for Hemochromatosis type 5
Explore actively recruiting Hemochromatosis type 5 studies with HealthSpark.
Find actively recruiting studies for Hemochromatosis type 5 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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