Overview
Disorder of iron metabolism and transport is a broad group of rare conditions in which the body has trouble properly handling iron. Iron is a mineral that your body needs to make red blood cells and carry oxygen throughout your tissues. In these disorders, the processes that absorb iron from food, move iron through the bloodstream, store iron in organs, or use iron to build important proteins like hemoglobin may not work correctly. This can lead to either too much iron building up in the body (iron overload) or too little iron being available where it is needed (iron deficiency that does not respond to normal treatments). Symptoms vary widely depending on the specific underlying problem. Some people develop anemia, which causes fatigue, pale skin, and shortness of breath. Others may accumulate excess iron in the liver, heart, or other organs, leading to organ damage over time. Joint pain, skin color changes, and hormonal problems can also occur. In some forms, symptoms begin in childhood, while in others they may not appear until adulthood. Treatment depends on whether the problem involves too much or too little iron. For iron overload conditions, treatments may include regular blood removal (phlebotomy) or medications called iron chelators that help remove excess iron. For conditions involving iron deficiency or poor iron use, iron supplements or specialized therapies may be needed. Early diagnosis and ongoing monitoring by specialists are important to prevent complications such as liver disease, heart failure, or severe anemia.
Key symptoms:
Extreme tiredness and fatiguePale skinShortness of breathJoint pain and stiffnessDarkening or bronzing of the skinAbdominal painEnlarged liverUnexplained weight lossWeaknessHeart rhythm problemsDifficulty concentrating or brain fogLow blood counts (anemia)Hormonal imbalances such as low thyroid or diabetesLoss of sex drive or menstrual irregularities
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder of iron metabolism and transport.
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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 Disorder of iron metabolism and transport.
Community
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Caregiver Resources
NORD 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.What specific type of iron metabolism disorder do I have, and which gene is involved?,How often will I need blood tests to monitor my iron levels?,Do I need phlebotomy, iron chelation, or another treatment, and how often?,Should my family members be tested for this condition?,Are there specific foods, supplements, or medications I should avoid?,What organs are at risk for damage, and how will you monitor them?,Are there any clinical trials or new treatments I should know about?
Common questions about Disorder of iron metabolism and transport
What is Disorder of iron metabolism and transport?
Disorder of iron metabolism and transport is a broad group of rare conditions in which the body has trouble properly handling iron. Iron is a mineral that your body needs to make red blood cells and carry oxygen throughout your tissues. In these disorders, the processes that absorb iron from food, move iron through the bloodstream, store iron in organs, or use iron to build important proteins like hemoglobin may not work correctly. This can lead to either too much iron building up in the body (iron overload) or too little iron being available where it is needed (iron deficiency that does not r
Which specialists treat Disorder of iron metabolism and transport?
10 specialists and care centers treating Disorder of iron metabolism and transport are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.