Overview
HJV or HAMP-related hemochromatosis, also called juvenile hemochromatosis or type 2 hemochromatosis, is a rare inherited condition where the body absorbs too much iron from food. Unlike the more common adult form of hemochromatosis, this type usually begins causing serious problems in teenagers and young adults. The extra iron builds up in organs like the heart, liver, and hormone-producing glands, slowly damaging them over time. The most common problems caused by this iron overload include heart disease, liver damage, and hormonal issues such as delayed puberty or infertility. Without treatment, the heart damage in particular can become life-threatening at a young age. The condition is caused by changes (mutations) in one of two genes: HJV (also called HFE2) or HAMP. Both genes play an important role in controlling how much iron the body absorbs. The good news is that treatment is available and works well when started early. The main treatment is called phlebotomy, which simply means regularly removing blood from the body to lower iron levels. This is similar to donating blood. When iron overload is caught and treated early, many people can live a relatively normal life. However, damage that has already happened to organs before treatment begins may not fully reverse, which is why early diagnosis is so important.
Also known as:
Key symptoms:
Extreme tiredness and low energyHeart problems such as irregular heartbeat, heart failure, or chest painLiver damage or cirrhosisDelayed puberty or failure to go through puberty normallyInfertility or loss of sex driveJoint pain, especially in the hands and fingersSkin that looks bronze or gray in colorDiabetes caused by iron damage to the pancreasAbdominal painWeakness and muscle achesHormonal imbalances affecting the thyroid or adrenal glands
Clinical phenotype terms (15)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for HJV or HAMP-related hemochromatosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for HJV or HAMP-related hemochromatosis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for HJV or HAMP-related hemochromatosis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to HJV or HAMP-related hemochromatosis.
Community
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How much iron has already built up in my organs, and has any damage occurred?,How often will I need phlebotomy, and what should I expect during and after each session?,Should my siblings and parents be tested for this condition?,Will my heart and liver damage improve with treatment, or is some of it permanent?,What dietary changes should I make to help manage my iron levels?,Are there any clinical trials or new treatments I should know about?,How will this condition affect my fertility, and are there options if I want to have children?
Common questions about HJV or HAMP-related hemochromatosis
What is HJV or HAMP-related hemochromatosis?
HJV or HAMP-related hemochromatosis, also called juvenile hemochromatosis or type 2 hemochromatosis, is a rare inherited condition where the body absorbs too much iron from food. Unlike the more common adult form of hemochromatosis, this type usually begins causing serious problems in teenagers and young adults. The extra iron builds up in organs like the heart, liver, and hormone-producing glands, slowly damaging them over time. The most common problems caused by this iron overload include heart disease, liver damage, and hormonal issues such as delayed puberty or infertility. Without treatm
How is HJV or HAMP-related hemochromatosis inherited?
HJV or HAMP-related hemochromatosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does HJV or HAMP-related hemochromatosis typically begin?
Typical onset of HJV or HAMP-related hemochromatosis is juvenile. Age of onset can vary across affected individuals.