A wide range of diseases known as inherited bone marrow (BM) failure syndromes is defined by BM failure, frequently in conjunction with more than or around 1 extrahematopoietic abnormality. The pediatric age range is where BM failure, which can encompass less than or around 1 cell lineage, frequently manifests.

Additionally, some kids diagnosed with idiopathic myelodysplasia or aplastic anemia had cryptic cases of hereditary BM failure. An understanding of normal hematopoiesis and how it is affected in patients with BM failure has been gained due to the identification of more than 100 disease genes, thanks to significant improvements in the genetics of these diseases. The Fanconi anemia (FA) genes, the dyskeratosis congenita (DC) genes, and the genes for Shwachman-Diamond syndrome and Diamond-Blackfan anemia have all contributed significant knowledge on essential biological mechanisms. The illnesses have also contributed to understanding human development and cancer since they are typically linked to extrahematopoietic abnormalities and an elevated risk of malignancy.

Genetic tests developed due to recent advancements in the clinic help with diagnosis, mainly when clinical symptoms are insufficient to diagnose an illness correctly. Fludarabine-based hematopoietic stem cell transplantation procedures have considerably improved results, especially in patients with FA or DC. However, managing specific additional issues, including cancer, is still difficult. A renewed focus on hematopoietic gene therapy and medications that target disease-specific defects, such as PAPD5, a human poly(A) polymerase inhibitor, and transforming growth factor-β inhibitors for FA and DC, have been suggested by recent studies as potential new and potentially more effective treatments.

Reference: ashpublications.org/blood/article/140/6/556/485319/Inherited-bone-marrow-failure-in-the-pediatric