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lüll Marrow failure D'Andrea AD; Dahl N; Guinan EC; Shimamura AHematology Am Soc Hematol Educ Program 2002[]; ä (ä): 58-72This chapter describes the clinical presentation and molecular basis of two inherited bone marrow failure syndromes, Fanconi anemia (FA), and Diamond-Blackfan anemia (DBA). It also provides an update on diagnostic and therapeutic approaches to bone marrow failure of all types (inherited and acquired) in pediatric patients. In Section I, Dr. Alan D'Andrea reviews the wide range of clinical manifestations of Fanconi anemia. Significant advances have been made in understanding the molecular pathogenesis of FA. On the basis of these advances, new diagnostic assays and treatment options are now available. In Section II, Dr. Niklas Dahl examines the clinical features and molecular pathogenesis of Diamond-Blackfan anemia. The possible links between the RPS19 gene (DBA gene) and the erythropoiesis defect are considered. In Section III, Drs. Eva Guinan and Akiko Shimamura provide an algorithm for the diagnostic evaluation and treatment of children with inherited or acquired aplastic anemia. Through the presentation of a case study of a pediatric patient with bone marrow failure, he provides an overview of the newest tests and treatment options.|Adult[MESH]|Anemia, Diamond-Blackfan/diagnosis/genetics/pathology[MESH]|Bone Marrow Diseases/*diagnosis/mortality/*therapy[MESH]|Child[MESH]|Erythropoiesis[MESH]|Fanconi Anemia/diagnosis/etiology/therapy[MESH]|Humans[MESH]|Proteins/genetics[MESH]|Ribosomal Proteins/genetics[MESH] |