Sideroblastic anemia associated with thrombocytosis and a chromosome 3 abnormality

Ultrastructural features of bone marrow cells from patients with acquired sideroblastic anemia

“…Giant elongated mitochondria, with a mean length of 2.5-3 m, have been observed in the erythroid precursors from two children with mitochondrial cytopathies (Bader-Mennier et al, 1999). The finding of nuclear alterations in the white blood cells in our patients may serve as an indication that the disease may affect a progenitor cell common for these lineages, a suggestion forwarded by Carroll et al (1986).…”

Guideline for investigation and management of adults and children presenting with a thrombocytosis

“…Overall, 20 patients (83%) had megakaryocytic dysplasia, but only 4 patients (16%) had an absolute thrombocytosis (platelet count >500 × 10 9 /l) (Grigg et al , 1993). A single case report has been published of sideroblastic anaemia with thrombocytosis in the setting of an ins(3;3)(q26;q21q26) mutation, leading to recurrent thromboembolic phenomena that proved fatal (Carroll et al , 1986). This demonstrated a rare but potentially important link between 3q anomalies and an RARS‐T phenotype (see below), plus the possible prothrombotic consequences of a raised platelet count in the MDS/MPN setting.…”

Human preleukaemia: do we have a model?

“…Micromegakaryocytes with poor granule formation are common in the bone marrow (Bennett et al, 1982). Occasional patients with sideroblastic anaemia have been reported with an abnormally high platelet count (May et al, 1985;Carroll et al, 1986). Amongst 54 sideroblastic patients seen in Cardiff, 5 had a pathologically high platelet count.…”