Alfadil Haroon: New Genetic Insights into Bone Marrow Failure Syndromes
Alfadil Haroon, Assistant Consultant of Hematology at King Faisal Specialist Hospital and Research Centre, Assistant Professor at Alfaisal University, shared a post on LinkedIn:
“Happy to share our book chapter titled ‘Newly Recognized Marrow Failure Syndromes‘ in the textbook on bone marrow failure syndromes.
This chapter reviews recently identified bone marrow failure syndromes described between 2012 and 2025, expanding beyond the classical conditions such as Fanconi anemia and Dyskeratosis congenita.
Advances in Next-Generation Sequencing have enabled the discovery of several novel genetic etiologies, including MYSM1, DNAJC21, ADH5/ALDH2, MECOM, ERCC6L2,TP53,OSM, and SAMD9/SAMD9L.
These findings are reshaping our understanding of inherited BMF, highlighting diverse clinical phenotypes, early onset cytopenias, and variable risks of progression to myeloid malignancies.
Improved genomic insights are helping clinicians refine diagnosis, risk assessment, and treatment strategies.”
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