title: Translocation t(1;3)(p36;q21) in sideroblastic anaemia.
abstract: An unique case of primary acquired sideroblastic anaemia (PASA) with hyperactive thrombopoiesis is described. Chromosome study revealed that the bone marrow cells of the affected patient contained t(1;3)(p36;q21). A prominent feature was marked megakaryocytic hyperplasia with dysmegakaryocytopoiesis. The platelet count temporarily exceeded 500 x 10(9)/1. In addition, we studied the cellular distribution of the unusual chromosome abnormality in this case. Few erythroid colonies (CFU-E and BFU-E) were observed and normal numbers of CFU-GM were formed. Some metaphases containing the clonal karyotypic abnormality were found in the granulocyte-macrophage colonies. However, no abnormal metaphases were apparent in preparations of T and B lymphocytes. The findings in the present case suggest that the long arm of chromosome 3 may contain a region involved in the regulation of megakaryopoiesis. Furthermore, our results strongly indicate that the target cell for chromosomal change is not a pluripotent stem cell (common to lymphoid and myeloid cells) but a progenitor cell common to all myeloid lineages.
authors.affiliation: First Department of Internal Medicine, School of Medicine, Ehime University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Fukuoka
authors.forename: H
authors.initials: H
authors.lastname: Kameoka
authors.forename: M
authors.initials: M
authors.lastname: Yasukawa
authors.forename: K
authors.initials: K
authors.lastname: Yanagisawa
authors.forename: T
authors.initials: T
authors.lastname: Tamai
authors.forename: S
authors.initials: S
authors.lastname: Fujita
mesh_terms: D000756:Anemia, Sideroblastic / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D002893:Chromosomes, Human, Pair 3; D006801:Humans; D008297:Male; D008875:Middle Aged; D014178:Translocation, Genetic