Living with Juvenile hemochromatosis
An inherited condition in which too much iron builds up in the body, affecting the liver, heart, and pancreas, with symptoms starting in childhood.
Understanding Juvenile hemochromatosis
Extra iron can damage organs, especially the liver, heart, and pancreas. Symptoms usually start in childhood and can include liver disease, heart disease, and low sex hormones, which can mean missed periods or delayed puberty. Other symptoms may include abdominal pain, diabetes, and skin darkening. Diagnosis can use blood tests, MRI, or liver biopsy, and is confirmed by genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low sex hormones (hypogonadism)
- Diabetes
- Stretched, thinned heart muscle (dilated cardiomyopathy)
- Joint disease
- Darkened skin
- Tiredness and muscle weakness
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
Changes in the HFE2 (HJV) or HAMP genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: hemochromatosis type 2; hfe2; hjv or hamp-related hemochromatosis; jhh; juvenile 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 Juvenile hemochromatosis.
Explore research for Juvenile hemochromatosis
Explore actively recruiting Juvenile hemochromatosis studies with HealthSpark.
Find actively recruiting studies for Juvenile hemochromatosis 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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