Disorder of iron metabolism and transport

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ORPHA:309842E83.1
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10Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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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

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Disorder of iron metabolism and transport.

View clinical trials →

No actively recruiting trials found for Disorder of iron metabolism and transport at this time.

New trials open frequently. Follow this disease to get notified.

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Specialists

10 foundView all specialists →
UP
Usha Ramakrishnan, PhD
OKLAHOMA CITY, OK
Specialist
PI on 1 active trial
HP
Hongtian Li, PhD
Specialist
PI on 1 active trial
YP
Yubo Zhou, PhD
Specialist
PI on 1 active trial
KP
Kimberly O O'Brien, PhD
Specialist
PI on 1 active trial
QM
Qiyun Du, MD
Specialist
PI on 1 active trial
IP
Isabelle Aeberli, PhD
Specialist
PI on 1 active trial
EM
Eva Pressman, MD
ROCHESTER, NY
Specialist
PI on 1 active trial
SB
Shujin Zhou, B.S.Med
Specialist
PI on 1 active trial47 Disorder of iron metabolism and transport publications
VM
Venugopal P Menon
BELLAIRE, TX
Specialist
PI on 1 active trial
JD
James M Davison
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Disorder of iron metabolism and transport.

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Community

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Latest news about Disorder of iron metabolism and transport

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Caregiver Resources

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Social Security Disability

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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.