inherited bone marrow failure syndromes

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inherited bone marrow failure syndromes

IBMFS

A group of rare disorders of stem cells detected in childhood and adolescence and characterized by aplastic anemia and a propensity to develop leukemia. These disorders include Diamond-Blackfan anemia, dyskeratosis congenita, and Fanconi's anemia.

References in periodicals archive ?

Although this patient demonstrates the classic findings of DC, many patients present with more subtle findings, making the distinction between IBMFS subtypes and acquired bone marrow failure difficult, further highlighting the necessity to combine clinical and diagnostic modalities for proper diagnosis.

Telomere length analysis offers high sensitivity, but limited specificity, for distinguishing between IBMFS and acquired bone marrow failure.

[6] Nonstandard abbreviations: BM, bone marrow; FISH, fluorescence in situ hybridization; AA, aplastic anemia; IBMFS, inherited BM failure syndrome; DC, dyskeratosis congenita; TL, telomere length; MTL, median TL; flow-FISH, flow cytometry-based FISH; HCT, hematopoietic cell transplantation.