Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria


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Inclusion criteria:

Aplastic anaemia

  • Bi-cytopenia or pancytopenia: at least 2 of 3 following: Hb <10g/dl, platelet count < 50 x 109/l, neutrophil count < 1.5 x 109/l, AND
  • Hypocellular bone marrow biopsy, AND
  • Normal MMC/DEB-induced (Fanconi anaemia)chromosome breakage result, AND
  • All cases must be discussed and approved by the aplastic anaemia/myeloid MDT at the recruiting GMC

 Paroxysmal nocturnal haemoglobinuria (PNH)

  • Presence of PNH clone by flow cytometry, AND
  • All cases must be discussed and approved by the PNH/aplastic anaemia/myeloid MDT at the recruiting GMC

Exclusion criteria:

Aplastic anaemia

  • Abnormal infiltrate or fibrosis in bone marrow
  • B12 or folate deficiency
  • Known genetic cause already identified in proband or family member

 Paroxysmal nocturnal haemoglobinuria

  • Absence of PNH clone by flow cytometry

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

 Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  •  Consideration of DKC1, PIGA, TERC, TERT, SBDS

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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