STEP 2: Presentation, initial investigations and referral

The following signs and symptoms should be investigated:

  • persistent tiredness and fatigue
  • weakness
  • shortness of breath with minimal exercise
  • looking pale
  • recurring infections, especially chest infections
  • fevers
  • sore mouth due to mouth ulcers
  • easy bruising
  • purpura – a rash of small red dots
  • tendency to bleed from the nose and gums.

The presence of multiple signs and symptoms, particularly in combination with other underlying risk factors, indicates an increased risk of MDS.

Initial investigations include:

  • patient history and physical examination
  • blood tests to detect abnormalities and exclude other diagnoses – for example: full blood cell count and film review, reticulocyte counts, lactate dehydrogenase, autoimmune screen (ANA/ENA), blood group, B12/folate and iron studies, electrolytes, liver function, renal function, blood cell, haemolysis and thyroid function (where clinically appropriate) and serum electrophoresis and serologies for chronic viral infections like HCV, HBV and HIV.

Referral options

At the referral stage, the patient’s GP or other referring doctor should advise the patient about their options for referral, waiting periods, expertise, if there are likely to be out-of-pocket costs and the range of services available. This will enable patients to make an informed choice of specialist and health service.

A GP can safely monitor suspected MDS in certain cases where the patient has mild cytopenias and significant comorbidities.


The GP’s responsibilities include:

  • explaining to the patient and/or carer who they are being referred to and why
  • supporting the patient and/or carer while waiting for specialist appointments
  • informing the patient and/or carer that they can contact Cancer Council (13 11 20) or the Leukaemia Foundation (1800 620 420).


  • Signs and symptoms recorded
  • Investigations completed
  • Supportive care needs assessed and referrals to allied health services actioned as required
  • Patient notified of support services such as Cancer Council 13 11 20, Leukaemia Foundation 1800 620 420
  • Referral options discussed with the patient and/or carer including cost implications


Results should be provided to the patient within 4 weeks or sooner if the person is acutely unwell.

The urgency of specialist referral depends on the severity of cytopenias and clinical presentation.

Patients should usually be referred within 4 weeks of receiving all initial test results. Cases that require urgent referral within 2 weeks of initial work-up include:

  • severe cytopenias and recurrent infections needing antibiotics
  • platelets < 30 × 10^9/L or bleeding symptoms even if platelets are above the threshold
  • symptomatic unexplained anaemia or haemoglobin < 80 g/L