Lecture 16: Hereditary Marrow Failure Syndromes
Daria Babushok, MD PhD
Presentation Date:
January 22, 2026
> The inherited bone marrow failure syndromes (IBMFS) are a group of rare genetic blood disorders in which there is usually some form of aplastic anemia.
> While rare, these disorders have taught us a great deal about normal and abnormal hematopoiesis.
Daria Babushok, MD PhD
Assistant Professor of Medicine, Hematology-Oncology
University of Pennsylvania
daria.babushok@pennmedicine.upenn.edu
Disclosures for Daria Babushok, MD PhD
‣ Retro: consulting
‣ Novartis: participation in PNH Delphi pane
Learning Objectives: > To develop a practical approach to the recognition and diagnosis of bone marrow failure syndromes
> To review the presenting features, prognosis, and treatment of selected hereditary marrow failure and predisposition syndromes:
> GATA2 deficiency
> Fanconi Anemia
> Telomere Biology Disorders
> Diamond Blackfan Anemia>
Shwachman Diamond Syndrome
> Distinguishing acquired aplastic anemia from inherited bone marrow failure (PASS Score)
Left: Guido Fanconi (1892 to 1979) was a Swiss pediatrician who described the hereditary marrow failure syndrome that bears his name.