The 5q--syndrome: an underdiagnosed form of macrocytic anaemia

Since the description in 1974 of the 5q--syndrome, only 29 cases have been reported. Over a 3 1/2 year period cytogenetic culture of bone marrow submitted from 344 patients being investigated for a blood disorder revealed nine patients with anomalies of chromosome 5. In five of these patients (samples arising from 37 patients being investigated for refractory macrocytic or aplastic anaemia) the 5q-syndrome was diagnosed. The clinical and haematological findings of this syndrome are reviewed and attention is drawn to the importance of reviewing megakaryocytic numbers and morphology in refractory macrocytic anaemia if the diagnosis is to be considered. The diagnosis is compatible with prolonged survival and establishing it prevents repeated and unnecessary investigation.