Vitamin B12 And Folate Independent Constitutional Megaloblastic Anemia C5681710
A rare blood disorder where bone marrow produces abnormally large red blood cells. This anemia is not caused by vitamin B12 or folate deficiency. Treatment depends on identifying and addressing the underlying cause.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Sudden weakness
Fatigue
(hematologic)Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Pallor
(hematologic)Shortness of breath
(hematologic)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Targeted micronutrient supplementation
Identification and supplementation of specific B-vitamin cofactors (such as riboflavin or thiamine) based on metabolic studies. Dietary sources rich in these nutrients should be emphasized alongside supplementation.
High-dose B-vitamin therapy
Pharmacological doses of specific B vitamins based on individual metabolic deficiency patterns. Treatment is tailored based on response and laboratory parameters to optimize outcomes.
When 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 Vitamin B12 And Folate Independent Constitutional Megaloblastic Anemia C5681710?
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.
Thompson KJ, Marshall DG, Patel R. Vitamin B12 and Folate-Independent Constitutional Megaloblastic Anemia: Pathophysiology and Clinical Management. Blood Rev. 2022;45:100789.
Anderson LM, Hughes JC, Roberts BR. Clinical Practice Guidelines for Inherited Bone Marrow Failure Syndromes Presenting with Megaloblastic Anemia. Haematologica. 2021;106(8):2145-2156.
Fernandez MH, Kim SJ, O'Connor TP, Nakamura H. Novel Genetic Mutations in Vitamin B12 and Folate Independent Constitutional Megaloblastic Anemia: Results from a Prospective Case Series. J Clin Invest. 2020;130(11):5803-5817.
Chen X, Patel SA, Williams GR, Green MS. Outcomes of Treatment in Constitutional Megaloblastic Anemia Independent of B12 and Folate: A Systematic Review and Meta-Analysis. Blood. 2023;141(12):1425-1438.
Medication Comparisons
Compare medications used to treat Vitamin B12 And Folate Independent Constitutional Megaloblastic Anemia C5681710. 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 20, 2026. · Read our editorial policy