OBSOLETE: Hemochromatosis type 5

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Overview

Hemochromatosis type 5 is a rare, obsolete diagnostic category that was previously used to describe a form of hereditary hemochromatosis — a condition where the body absorbs and stores too much iron from food. Over time, this excess iron builds up in organs like the liver, heart, and pancreas, which can cause serious damage if left untreated. The term 'type 5' was associated with a variant in the transferrin receptor 2 (TFR2) gene or related iron-regulation pathways, though this classification has since been revised or retired in current medical literature, which is why it carries the 'OBSOLETE' label in rare disease databases. In general, hereditary hemochromatosis causes symptoms that develop slowly over many years. People may experience fatigue, joint pain, and skin color changes before more serious organ damage occurs. The liver is often the first organ significantly affected, potentially leading to cirrhosis or liver failure if iron overload is not managed. The heart and hormone-producing glands can also be damaged. Treatment for iron overload conditions like this typically involves regular removal of blood (called phlebotomy), which is a safe and effective way to reduce iron levels in the body. When caught early and treated consistently, most people can live a normal or near-normal life. If you have been given this diagnosis, speak with a specialist about which current classification best applies to your situation.

Key symptoms:

Extreme tiredness or fatigueJoint pain, especially in the knuckles and fingersAbdominal painLiver enlargement or liver diseaseSkin that looks bronze or gray in colorDiabetes or high blood sugarHeart problems such as irregular heartbeat or heart failureLoss of sex drive or sexual dysfunctionHormone imbalancesMemory problems or difficulty concentratingHair lossWeakness in muscles

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Hemochromatosis type 5.

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No actively recruiting trials found for OBSOLETE: Hemochromatosis type 5 at this time.

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

Search ClinicalTrials.gov ↗Join the OBSOLETE: Hemochromatosis type 5 community →

No specialists are currently listed for OBSOLETE: Hemochromatosis type 5.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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 OBSOLETE: Hemochromatosis type 5.

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Community

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Latest news about OBSOLETE: Hemochromatosis type 5

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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.Since this diagnosis is now considered obsolete, what is the current classification that best fits my condition?,Which specific gene change do I have, and what does that mean for my treatment and prognosis?,How often do I need phlebotomy, and how will we know when my iron levels are under control?,Should my close family members be tested for iron overload conditions?,Are there any foods, supplements, or medications I should avoid?,What signs of organ damage should I watch for, and when should I go to the emergency room?,Are there any clinical trials or new treatments I should know about?

Common questions about OBSOLETE: Hemochromatosis type 5

What is OBSOLETE: Hemochromatosis type 5?

Hemochromatosis type 5 is a rare, obsolete diagnostic category that was previously used to describe a form of hereditary hemochromatosis — a condition where the body absorbs and stores too much iron from food. Over time, this excess iron builds up in organs like the liver, heart, and pancreas, which can cause serious damage if left untreated. The term 'type 5' was associated with a variant in the transferrin receptor 2 (TFR2) gene or related iron-regulation pathways, though this classification has since been revised or retired in current medical literature, which is why it carries the 'OBSOLET

How is OBSOLETE: Hemochromatosis type 5 inherited?

OBSOLETE: Hemochromatosis type 5 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Hemochromatosis type 5 typically begin?

Typical onset of OBSOLETE: Hemochromatosis type 5 is adult. Age of onset can vary across affected individuals.