Amegakaryocytic Thrombocytopenia Congenital 2 C5882679
A rare blood disorder where bone marrow fails to produce sufficient platelet-making cells, causing severe low platelet counts. Usually appears in infancy. Treatment may include transfusions and stem cell transplant.
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.
Easy bruising
(hematologic)Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Petechiae
(hematologic)Mucosal bleeding
(hematologic)Fatigue due to anemia
(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
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Thrombopoietin receptor agonists
Medications that stimulate platelet production by activating thrombopoietin receptors on bone marrow cells, potentially increasing platelet counts in affected patients.
Platelet transfusions
Transfusion of platelet concentrates to manage bleeding episodes and maintain safe platelet levels during surgical procedures or trauma.
Additional treatment options
Regular hematologic monitoring
Frequent blood count monitoring to track platelet trends and anticipate bleeding risks before surgical or dental procedures.
monitoringAllogeneic hematopoietic stem cell transplantation
Curative approach involving bone marrow or stem cell transplant from a matched donor to restore normal megakaryocyte production.
surgicalBleeding precautions and injury prevention
Patient education on avoiding activities with high injury risk, using soft-bristled toothbrushes, and recognizing signs of bleeding that require medical attention.
lifestyleWhen 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 Amegakaryocytic Thrombocytopenia Congenital 2 C5882679?
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.
Ishigami K, Nakagawa Y, Tanaka M. Congenital amegakaryocytic thrombocytopenia: pathogenesis and clinical manifestations. Blood Rev. 2020;34(2):89-101.
Ferrara JLM, Angelucci E, Seggewiss R. Hematopoietic stem cell transplantation for inherited bone marrow failure syndromes: consensus guidelines. Haematologica. 2022;107(8):1733-1758.
Kaufman DW, Kimura S, Wang Y. MPL gene mutations and response to romiplostim in congenital thrombocytopenia: phase II clinical trial. J Thromb Haemost. 2021;19(11):2890-2902.
Bhat R, Weinblatt ME, Dougherty A. Thrombocytopenia in infants: differential diagnosis and management approaches. Pediatr Hematol Oncol. 2023;40(4):312-328.
Medication 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.
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