Translocation t(1;3)(p36;q21) in sideroblastic anaemia

Acta Haematologica
T FukuokaS Fujita

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.

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