Overview
L-ferritin deficiency is a rare inherited condition that affects how the body stores and manages iron. Ferritin is a protein that acts like a storage container for iron inside your cells. There are two main types of ferritin: H-ferritin and L-ferritin. L-ferritin, made by the FTL gene, is especially important in the liver, spleen, and red blood cells. When the FTL gene does not work properly, the body cannot make enough L-ferritin, which disrupts normal iron storage throughout the body. This condition is also sometimes called hereditary hyperferritinemia-cataract syndrome (HHCS) when a different type of FTL mutation causes too much ferritin to build up — but true L-ferritin deficiency refers to having too little functional L-ferritin. People with L-ferritin deficiency may have very low ferritin levels in their blood, which can be mistaken for iron deficiency anemia. However, the underlying cause is genetic, not a lack of dietary iron. Symptoms can include fatigue, weakness, and problems related to abnormal iron handling in the body. Because this condition is so rare and can look like common iron deficiency, it is often misdiagnosed or diagnosed late. Treatment is mainly focused on managing symptoms, since there is no cure. Genetic testing is the most reliable way to confirm the diagnosis. Patients are usually followed by a hematologist and a clinical geneticist.
Key symptoms:
Very low ferritin levels in the bloodFatigue and low energyWeaknessAnemia-like symptoms despite normal or near-normal iron levelsPale skinShortness of breath with activityDifficulty concentratingDizziness or lightheadednessPoor exercise tolerance
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for L-ferritin deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for L-ferritin deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for L-ferritin deficiency.
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 L-ferritin deficiency.
Community
No community posts yet. Be the first to share your experience with L-ferritin deficiency.
Start the conversation →Latest news about L-ferritin deficiency
No recent news articles for L-ferritin deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Is my low ferritin definitely caused by the FTL gene, and should other family members be tested?,Should I avoid iron supplements, and are there any foods or vitamins I should limit?,How often do I need blood tests to monitor my iron and ferritin levels?,Are there any clinical trials or research studies I could join?,What symptoms should prompt me to seek urgent medical attention?,Should I see a hematologist regularly, and are there specialists who have experience with this specific condition?,How might this condition affect me as I get older, and what should I watch for long-term?
Common questions about L-ferritin deficiency
What is L-ferritin deficiency?
L-ferritin deficiency is a rare inherited condition that affects how the body stores and manages iron. Ferritin is a protein that acts like a storage container for iron inside your cells. There are two main types of ferritin: H-ferritin and L-ferritin. L-ferritin, made by the FTL gene, is especially important in the liver, spleen, and red blood cells. When the FTL gene does not work properly, the body cannot make enough L-ferritin, which disrupts normal iron storage throughout the body. This condition is also sometimes called hereditary hyperferritinemia-cataract syndrome (HHCS) when a differ
How is L-ferritin deficiency inherited?
L-ferritin deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.