Living with Heme oxygenase 1 deficiency
A rare inherited metabolic condition affecting blood cells, blood vessels, and kidneys, starting in childhood.
Understanding Heme oxygenase 1 deficiency
People are born without a spleen. Symptoms start in childhood or the teen years and can include widespread inflammation, anemia from red blood cells breaking down, damage to blood vessel linings, bleeding problems, and kidney disease. Some have slower growth, mild differences in facial features, and an enlarged liver.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No spleen at birth (asplenia)
- Anemia from red blood cell breakdown
- Blood in the urine
- Nosebleeds
- Enlarged liver (hepatomegaly)
- Slower growth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in HMOX1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the HMOX1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: heme oxygenase-1 deficiency; hmox1d; ho-1 (heme oxygenase-1) deficiency; ho-1 deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Heme oxygenase 1 deficiency.
Explore research for Heme oxygenase 1 deficiency
Explore actively recruiting Heme oxygenase 1 deficiency studies with HealthSpark.
Find actively recruiting studies for Heme oxygenase 1 deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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