title: Primary acquired sideroblastic anemia, thrombocytosis, and trisomy 8.
abstract: Myelodysplastic syndromes are usually associated with pancytopenia. Disorders involving deletion of the long arm of chromosome 5 (5q-syndrome) and, rarely, patients with karyotypic abnormalities involving chromosome 3 associated with abnormal thrombopoiesis may have a normal or even raised platelet count. Other cytogenetic abnormalities in myelodysplasia are invariably associated with cytopenia in one or all cell lineages. We report a patient who initially presented with slight anemia and a raised platelet count. Further investigations suggested a diagnosis of primary acquired sideroblastic anemia. Cytogenetic examination revealed a clone with trisomy 8. We believe this is the first reported case of trisomy 8 with trilineage myelodysplasia and thrombocytosis with primary acquired sideroblastic anemia.
authors.affiliation: Regional Transfusion Center, Forresterhill, Aberdeen UK.
authors.forename: K
authors.initials: K
authors.lastname: Patel
authors.forename: P
authors.initials: P
authors.lastname: Kelsey
mesh_terms: D000368:Aged; D000756:Anemia, Sideroblastic / Q000150:complications* / Q000209:etiology / Q000235:genetics; D001853:Bone Marrow / Q000473:pathology; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D007621:Karyotyping; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics; D013922:Thrombocytosis / Q000150:complications* / Q000235:genetics; D014314:Trisomy