| Summary: | The purpose of this review is to provide the haematologist with a working knowledge of the common inherited bone marrow failure syndromes (iBMFS) diagnosed in early childhood to young adulthood. Although these disorders are heterogeneous, this article discusses their common features, pathophysiology, and management. Each of these syndromes has a spectrum of clinical variation and can cause both haematological and non-haematological manifestations. Most pathogenic mutations responsible are in genes important to a progenitor cell’s ability to maintain genomic integrity, which accounts for the clinical phenotypes often affecting multiple tissues. Furthermore, all of these syndromes predispose not only to aplastic anaemia but also to myelodysplastic syndrome/acute myeloid leukaemia. Since iBMFS only account for a small percentage of childhood leukaemia cases, it is important that the clinician maintains a high clinical suspicion as appropriate diagnosis impacts treatment, health screening, and family members. Identification of iBMFS is critically important for appropriate donor selection and transplant regimens, as haematopoietic stem cell transplantation is curative for the haematological manifestations of these diseases, but treatment-related mortality can be excessive if modifications are not made to conditioning.
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