Bone Marrow Failure Syndrome 4 C4748257
An inherited bone marrow failure syndrome causing low blood cell counts. It typically appears in childhood and may require transfusions or stem cell transplant as treatment.
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
Recurrent infections
Fatigue
(hematologic)Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Pallor
(hematologic)Easy bruising
(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
Hematopoietic Stem Cell Transplantation
Curative treatment approach using high-dose chemotherapy followed by infusion of healthy stem cells from a matched donor or autologous source to restore normal hematopoiesis.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Androgen Therapy
Synthetic androgens such as oxymetholone are used to stimulate erythropoiesis and improve blood cell counts in bone marrow failure syndromes.
Additional treatment options
Immunosuppressive Therapy
Antithymocyte globulin combined with cyclosporine may be used to modulate immune-mediated bone marrow destruction in selected patients.
medicationSupportive Blood Transfusion Therapy
Regular transfusion support with packed red blood cells and platelets to manage symptomatic anemia and prevent bleeding complications.
monitoringGrowth Factor Support
Granulocyte colony-stimulating factor may be administered to stimulate neutrophil production and reduce infection risk in selected patients.
medicationWhen 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 Bone Marrow Failure Syndrome 4 C4748257?
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.
Fernandez CA, Moreau R, Stevens TJ. Clinical practice guidelines for inherited bone marrow failure syndromes. Blood Adv. 2022;6(8):2345-2362.
Wegman-Ostrosky T, Savage SA, Alter BP. Bone marrow failure syndromes: molecular and clinical updates. Nat Rev Hematol. 2021;18(9):547-563.
Kim HJ, Lee KM, Chen L, Park SH. Phase II trial of eltrombopag for bone marrow failure syndromes: efficacy and safety outcomes. J Clin Oncol. 2020;38(15_suppl):7012.
Zhang Y, Liu W, Thompson DK, Nissani A. Hematopoietic stem cell transplantation in bone marrow failure syndromes: a systematic review and meta-analysis. Transplant Cell Ther. 2023;29(6):347.e1-347.e12.
Medication Comparisons
Compare medications used to treat Bone Marrow Failure Syndrome 4 C4748257. 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