Overview
Heme oxygenase-1 deficiency (also called HO-1 deficiency) is an extremely rare inherited condition caused by the body not making enough of an enzyme called heme oxygenase-1. This enzyme plays a very important role in breaking down heme — a molecule found inside red blood cells. When heme builds up and cannot be properly processed, it causes damage to many organs throughout the body, including the blood vessels, kidneys, liver, and immune system. People with HO-1 deficiency often develop a type of anemia (low red blood cell count), along with widespread inflammation that can harm multiple organs over time. The kidneys and blood vessels are especially vulnerable. Patients may also have an enlarged spleen and liver, and their immune system may not work properly, making them more prone to infections and inflammatory episodes. Because this condition is so rare — with only a handful of cases ever reported in medical literature — treatment is not yet well established. Care is mainly focused on managing symptoms, reducing inflammation, and protecting organs from further damage. Bone marrow transplantation has been attempted in some patients. Researchers are still learning about the best ways to treat this disease, and patients are encouraged to be followed at specialized centers with experience in rare metabolic and hematological disorders.
Also known as:
Key symptoms:
Anemia (low red blood cell count causing tiredness and paleness)Enlarged spleen (splenomegaly)Enlarged liver (hepatomegaly)Kidney damage or kidney failureWidespread inflammation throughout the bodyBlood vessel damage (vasculopathy)Abnormal blood clottingStunted growth in childrenFrequent or severe infectionsSkin rashes or lesionsHigh levels of inflammatory markers in blood testsElevated bilirubin levels in the blood
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Heme oxygenase-1 deficiency.
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Specialists
View all specialists →No specialists are currently listed for Heme oxygenase-1 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 Heme oxygenase-1 deficiency.
Community
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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.What genetic testing should my family members have, and what does a positive result mean for them?,Which specialists should be part of my care team, and how often should I see each one?,Is bone marrow transplantation an option for me or my child, and what are the risks and benefits?,Are there any clinical trials or research studies I should know about?,What symptoms should prompt me to go to the emergency room immediately?,Are there any dietary changes or medications I should avoid because of this condition?,How will we monitor for organ damage over time, and what tests will be needed regularly?
Common questions about Heme oxygenase-1 deficiency
What is Heme oxygenase-1 deficiency?
Heme oxygenase-1 deficiency (also called HO-1 deficiency) is an extremely rare inherited condition caused by the body not making enough of an enzyme called heme oxygenase-1. This enzyme plays a very important role in breaking down heme — a molecule found inside red blood cells. When heme builds up and cannot be properly processed, it causes damage to many organs throughout the body, including the blood vessels, kidneys, liver, and immune system. People with HO-1 deficiency often develop a type of anemia (low red blood cell count), along with widespread inflammation that can harm multiple orga
How is Heme oxygenase-1 deficiency inherited?
Heme oxygenase-1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Heme oxygenase-1 deficiency typically begin?
Typical onset of Heme oxygenase-1 deficiency is infantile. Age of onset can vary across affected individuals.