Cytogenetic and morphological abnormalities in paroxysmal nocturnal haemoglobinuria

David J. Araten, David Swirsky, Anastasios Karadimitris, Rosario Notaro, Khedoudja Nafa, Monica Bessler, Howard T. Thaler, Hugo Castro-Malaspina, Barrett H. Childs, Farid Boulad, Mark Weiss, Nikolaos Anagnostopoulos, Abdullah Kutlar, David G. Savage, Richard T. Maziarz, Suresh Jhanwar, Lucio Luzzatto

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42 Scopus citations


Paroxysmal nocturnal haemoglobinuria (PNH) is characterized by the expansion of a haematopoietic stem cell clone with a PIG-A mutation (the PNH clone) in an environment in which normal stem cells are lost or failing: it has been hypothesized that this abnormal marrow environment provides a relative advantage to the PNH clone. In patients with PNH, generally, the karyotype of bone marrow cells has been reported to be normal, unlike in myelodysplastic syndrome (MDS), another clonal condition in which cytogenetic abnormalities are regarded as diagnostic. In a retrospective review of 46 patients with a PNH clone, we found a karyotypic abnormality in 11 (24%). Upon follow-up, the proportion of cells with abnormal karyotype decreased significantly in seven of these 11 patients. Abnormal morphological bone marrow features reminiscent of MDS were common in PNH, regardless of the karyotype. However, none of our patients developed excess blasts or leukaemia. We conclude that in patients with PNH cytogenetically abnormal clones are not necessarily malignant and may not be predictive of evolution to leukaemia.

Original languageEnglish (US)
Pages (from-to)360-368
Number of pages9
JournalBritish Journal of Haematology
Issue number2
StatePublished - 2001


  • Aplastic anaemia
  • Bone marrow morphology
  • Chromosomal abnormalities
  • Myelodysplastic syndrome
  • Paroxysmal nocturnal haemoglobinuria

ASJC Scopus subject areas

  • Hematology


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