Primary acquired sideroblastic anemia, thrombocytosis, and trisomy 8

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.