Hematopoietic development: a gap in our understanding of inherited bone marrow failure

Inherited bone marrow failure syndromes (IBMFSs) are multisystem disorders with a predilection for exhaustion of the hematopoietic stem cell (HSC) pool as a near-uniform feature [1,2]. In most patients, symptomatic cytopenias do not manifest until early childhood, but cases of fetal anemia leading to intrauterine hydrops have been reported. Some infants come to attention with constitutional anomalies in other organ systems or through the diagnosis of symptomatic siblings. These seemingly disparate observations are consistent with prenatal HSC defects, even though until recently, few studies had directly pursued this possibility [3,4].
Source: Experimental Hematology - Category: Hematology Authors: Tags: Perspective Source Type: research