title: Current concepts and issues in Diamond-Blackfan anemia.
abstract: Diamond-Blackfan anemia, although rare, has been the focus of much attention with respect to both its clinical features and the characterization of the in vitro erythroid defect. Despite this, its pathophysiology is still unclear, and the treatment of steroid-refractory patients is still unsatisfactory. The recent chromosomal localization of a gene for familial Diamond-Blackfan anemia represents an important step forward toward the elucidation of this disorder. Therapeutic advances will depend on the development of collaborative studies, employing consensus criteria for diagnosis and response to therapy.
authors.affiliation: Laboratoire d'Hematologie, Centre Hospitalier Bicêtre, Le Kremlin-Bicêtre, France.
authors.forename: T N
authors.initials: TN
authors.lastname: Willig
authors.forename: S E
authors.initials: SE
authors.lastname: Ball
authors.forename: G
authors.initials: G
authors.lastname: Tchernia
mesh_terms: D002675:Child, Preschool; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D007223:Infant