title: Erythropoiesis during an erythroblastic phase of chronic myeloproliferative disorder associated with monosomy 7.
abstract: A chronic myeloproliferative disorder associated with monosomy 7 is described in a 3 1/2-year-old boy. His presenting features closely resembled those of juvenile chronic myeloid leukaemia (JCML). Cytogenetic study of bone marrow cells showed that all of the metaphases examined had chromosome 7 deletions. He developed an erythroblastic phase, characterized by anaemia, marked erythroid hyperplasia of bone marrow and the appearance of nucleated red blood cells in the peripheral blood. During the erythroblastic phase, blood transfusion resulted in a suppression of erythropoiesis as evidenced in both the peripheral blood and bone marrow. The in vitro culture studies showed that the erythroid precursor was dependent upon erythropoietin (Ep) for differentiation and proliferation during the erythroblastic phase. However, the Ep dose-response curve showed that a peak of erythroid colony formation occurred at a lower concentration than in the healthy controls. These findings suggest that although the erythroid precursor remains under the control of Ep, it has an increased sensitivity to Ep during the erythroblastic phase of monosomy 7.
mesh_terms: D001752:Blast Crisis; D001803:Blood Transfusion; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D004920:Erythropoiesis; D004921:Erythropoietin / Q000097:blood; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D009196:Myeloproliferative Disorders / Q000097:blood / Q000235:genetics* / Q000628:therapy
chemical_list: D004921:Erythropoietin