OBSOLETE: Hereditary iron overload with anemia

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ORPHA:140432
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Overview

Hereditary iron overload with anemia is a term that was previously used to describe a group of rare inherited conditions where the body accumulates too much iron while also having anemia (low red blood cell counts or poor red blood cell function). This entry has been marked as obsolete in medical databases, meaning it has been reclassified or split into more specific diagnoses. The conditions that fall under this umbrella typically involve problems with how the body makes red blood cells (a process called erythropoiesis) combined with excessive iron absorption from the gut. When red blood cell production is ineffective, the body mistakenly signals that it needs more iron, leading to iron buildup in organs such as the liver, heart, and pancreas. Patients may experience fatigue, weakness, pale skin, shortness of breath from the anemia, and over time may develop organ damage from iron overload, including liver disease, heart problems, and diabetes. The specific conditions now recognized under this category include diseases like congenital sideroblastic anemias, atransferrinemia, and DMT1-related iron overload. Treatment typically involves managing both the anemia and the iron overload, which may include blood transfusions, iron chelation therapy (medications that help remove excess iron from the body), and careful monitoring of organ function. Because this is an obsolete grouping, patients diagnosed under this term should work with their doctors to identify the specific underlying genetic condition for more targeted care.

Key symptoms:

Fatigue and low energyPale skinShortness of breathWeaknessLow red blood cell count (anemia)Enlarged liverEnlarged spleenDark or bronze skin color from iron buildupJoint painHeart problems such as irregular heartbeatDiabetes from iron damage to the pancreasAbdominal painPoor growth in children

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 OBSOLETE: Hereditary iron overload with anemia.

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No specialists are currently listed for OBSOLETE: Hereditary iron overload with anemia.

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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

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Has the specific genetic cause of my condition been identified, and if not, should I have genetic testing?,How often do I need blood tests to monitor my iron levels and blood counts?,Which iron chelation therapy is best for me, and what side effects should I watch for?,Will I need regular blood transfusions, and if so, how often?,Are there dietary changes I should make to help manage iron levels?,Should my family members be tested for this condition?,Are there any clinical trials or new treatments I should know about?

Common questions about OBSOLETE: Hereditary iron overload with anemia

What is OBSOLETE: Hereditary iron overload with anemia?

Hereditary iron overload with anemia is a term that was previously used to describe a group of rare inherited conditions where the body accumulates too much iron while also having anemia (low red blood cell counts or poor red blood cell function). This entry has been marked as obsolete in medical databases, meaning it has been reclassified or split into more specific diagnoses. The conditions that fall under this umbrella typically involve problems with how the body makes red blood cells (a process called erythropoiesis) combined with excessive iron absorption from the gut. When red blood cell