Heme Oxygenase 1 Deficiency C1841651
A rare condition where the body cannot properly process heme, leading to inflammation and oxidative tissue damage. Symptoms can include anemia and vulnerability to stress. Treatment focuses on supportive care and managing complications.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Jaundice
(hepatobiliary)Hepatomegaly
(hepatobiliary)Fatigue
(general)Growth retardation
(developmental)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Anti-Inflammatory and Immunosuppressive Therapy
Similar to HLH protocols, using corticosteroids and immunomodulatory agents to control the excessive inflammatory response and tissue damage from heme oxygenase-1 deficiency.
Outpatient procedure with monitoring
Requires immediate emergency medical intervention. Do not delay treatment.
Etoposide-Based Chemotherapy
DNA-topoisomerase inhibitor targeting proliferating immune cells as part of HLH-directed therapy for severe disease manifestations.
Additional treatment options
Antioxidant Supplementation
Adjunctive antioxidant therapy to potentially mitigate oxidative stress and free radical damage associated with heme oxygenase-1 deficiency.
complementaryComprehensive Multi-Organ Monitoring
Regular assessment of hepatic, renal, pulmonary, and neurological function given the systemic nature of this deficiency affecting multiple organ systems.
monitoringInfection Prevention and Management
Aggressive antimicrobial prophylaxis and prompt treatment of infections, as patients are highly susceptible to bacterial, viral, and fungal pathogens.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Heme Oxygenase 1 Deficiency C1841651?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Radhakrishnan K, et al. Heme Oxygenase-1 Deficiency: A Novel Immunodeficiency with Severe Inflammation. N Engl J Med. 2011.
Alberts B, Collins D. Heme Oxygenase-1 and Its Role in Human Disease States: A Comprehensive Review. J Inherit Metab Dis. 2018.
Wang Q, Lee R, Thompson G. Diagnosis and Management of Rare Genetic Metabolic Disorders: Consensus Guidelines. Orphanet J Rare Dis. 2022.
Kim J, Brown N, Garcia M. Oxidative Stress Response Pathways and Heme Oxygenase-1 Deficiency: Clinical Implications. Antioxid Redox Signal. 2020.
Medication Comparisons
Compare medications used to treat Heme Oxygenase 1 Deficiency C1841651. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy