Bone Marrow Failure

Excerpt

Bone marrow failure (BMF) refers to the decreased production of one or more major hematopoietic lineages, which leads to diminished or absent hematopoietic precursors in the bone marrow and attendant cytopenias. It can be divided into two categories: acquired and inherited. This activity will review the inherited forms in greater detail while briefly mentioning the acquired forms (covered more thoroughly under each specific topic).

Inherited bone marrow failure (IBMF) is bone marrow failure that occurs from germline mutations passed down from parents or arising de novo. In addition to symptoms associated with aplastic anemia, such as fatigue, hemorrhage, and recurrent bacterial infections, patients often have extra-marrow features unique to each syndrome.

The most common inherited bone marrow failure syndromes (IBMFSs) are Fanconi anemia (FA), dyskeratosis congenita (DC), Shwachman-Diamond syndrome (SDS), congenital amegakaryocytic thrombocytopenia (CAMT), Blackfan-Diamond anemia (BDA), and reticular dysgenesis (RD). Others are less common and share features with the inherited bone marrow failure syndromes listed, for example, short telomerase.