title: Sideroblastic anemia associated with thrombocytosis and a chromosome 3 abnormality.
abstract: A unique patient with sideroblastic anemia and thrombocytosis with a recurrent and ultimately fatal thromboembolic phenomenon is described. Cytogenetic analysis of bone marrow metaphases revealed a pseudodiploid chromosome complement, 46,XY,ins(3;3)(q26;q21q26). The association of thrombocytosis and ins(3;3) in patients with preleukemia or myelogenous leukemia has been reported previously. The association of ins(3;3) and thrombocytosis in our patient with sideroblastic anemia suggests that the disorder may involve a hematopoietic progenitor cell capable of giving rise to all three cell lineages. Our findings also support the suggestion that a gene on the long arm of chromosome #3 may encode a protein that, at least in part, regulates megakaryopoiesis.
authors.forename: A J
authors.initials: AJ
authors.lastname: Carroll
authors.forename: M C
authors.initials: MC
authors.lastname: Poon
authors.forename: N C
authors.initials: NC
authors.lastname: Robinson
authors.forename: W M
authors.initials: WM
authors.lastname: Crist
mesh_terms: D000328:Adult; D000756:Anemia, Sideroblastic / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D006410:Hematopoiesis; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics; D008297:Male; D008533:Megakaryocytes / Q000473:pathology; D011289:Preleukemia / Q000235:genetics; D011655:Pulmonary Embolism / Q000209:etiology; D013920:Thrombocythemia, Essential / Q000150:complications* / Q000235:genetics / Q000473:pathology