Patients with mild cytopenia can be identified early on by full blood examination. Others may present with symptoms such as fatigue, bruising or recurrent infections (see section 2.1 Signs and symptoms).

Some patients with cytopenia may not meet the criteria for MDS and may be categorised as clonal cytopenia of uncertain significance. The clinical significance of such a diagnosis is uncertain, and follow-up with general practitioner (until more severe cytopenia(s) occur) may be appropriate for such patients.