Hemochromatosis Type 2a C1865614
A rare genetic iron overload disorder affecting the HJV gene, causing severe iron buildup in organs. Typically emerges in youth with treatment involving phlebotomy.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cardiomyopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatomegaly
(gastrointestinal)Fatigue
(general)Hypogonadism
(endocrine)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Therapeutic phlebotomy
Regular removal of blood to reduce iron stores and prevent organ damage. Treatment frequency determined by ferritin levels and hemoglobin, typically weekly initially until iron depletion achieved. Lifelong maintenance phlebotomy required thereafter.
Iron studies and organ function surveillance
Regular monitoring of serum ferritin, transferrin saturation, and hepatic iron concentration to guide treatment intensity. Assessment of cardiac MRI, liver function, and endocrine markers for early damage detection.
Additional treatment options
Iron chelation therapy
Administration of chelating agents to bind excess iron for patients who cannot tolerate phlebotomy due to anemia or cardiac dysfunction. Treatment helps mobilize iron from tissues for urinary excretion.
medicationDietary iron restriction
Avoidance of iron-rich foods including red meat and iron-fortified products, plus limiting vitamin C supplements that enhance iron absorption. Patient education on iron content in foods and cooking in cast iron cookware.
lifestyleHepatoprotective support
Supplementation and supportive care to protect liver function and manage hepatic inflammation associated with iron deposition. May include vitamin E and other antioxidants under medical supervision.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Hemochromatosis Type 2a C1865614?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy