Inherited bone marrow failure syndromes (BMFs) comprise at least one-fourth of children with aplastic anemia, and perhaps up to 10% of adults. The most common syndrome is Fanconi's anemia (FA), with more than 1,000 reported cases. FA is autosomal recessive, with birth defects in approximately 75% of patients. It is a DNA repair syndrome, diagnosed by finding chromosomal aberrations in cells tre...

a therapeutic approach to children and adolescents with AML that leads to cure half of the time,. .. irrespective of the presence of a. .. family donor. " 1(p61) It is true that the presented event-free survival estimates for both the allogeneic BMT and chemotherapy groups receiving intensively timed induction therapy exceeded 50% (66% and 53%, respectively); this statement is misleading, howev...

Amegakaryocytic thrombocytopenia (AMT) is a rare and often fatal disorder of infancy and childhood presenting with isolated thrombocytopenia that progresses to marrow failure. The defect in thrombopoiesis is not well understood nor is the etiology of the progressive marrow failure. No standard modality of treatment exists. Here, we evaluated the capacity of marrow cells isolated from five patie...

Peripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings, such as lack of progenitors or maturation arrest in congenital neutropenia or a lack of megakaryocytes in congenital amegakaryocytic thrombocytopenia, whereas antibody-mediated d...

Bleeding syndromes that arise through an inherited defect of platelet production constitute a heterogeneous group of rare platelet disorders of growing importance. Some, including the Bernard-Soulier syndrome (BSS) and Wiskott-Aldrich syndrome (WAS), associate a low circulating platelet count with a deficiency in a known functional protein (Table 1). In others, platelet dysfunction has not been...